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<title>
Entry
- #123400 - CREUTZFELDT-JAKOB DISEASE; CJD
- OMIM
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<span class="h4">#123400</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/123400"><strong>Clinical Synopsis</strong></a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=CREUTZFELDT-JAKOB DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=697&Typ=Pat" title="Sporadic Creutzfeldt-Jakob disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Sporadic Creutzfeldt-Jakob…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20556&Typ=Pat" title="Inherited Creutzfeldt-Jakob disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Inherited Creutzfeldt-Jako…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=23653&Typ=Pat" title="Acquired Creutzfeldt-Jakob disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Acquired Creutzfeldt-Jakob…&nbsp;</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=204" title="Sporadic Creutzfeldt-Jakob disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Sporadic Creutzfeldt-Jakob…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=282166" title="Inherited Creutzfeldt-Jakob disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Inherited Creutzfeldt-Jako…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=454700" title="Acquired Creutzfeldt-Jakob disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Acquired Creutzfeldt-Jakob…</a></div>
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:11949" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/123400" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:11949" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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&nbsp;
<div style="display: table-cell;">Cell Lines</div>
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<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:123400" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 304603007, 713060000, 715807002, 792004<br />
<strong>ICD10CM:</strong> A81.0, A81.00, A81.01, A81.09<br />
<strong>ICD9CM:</strong> 046.1, 046.11<br />
<strong>ORPHA:</strong> 204, 282166, 454700<br />
<strong>DO:</strong> 11949<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
123400
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CREUTZFELDT-JAKOB DISEASE; CJD
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CREUTZFELDT-JAKOB DISEASE, FAMILIAL
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED; sCJD, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
CREUTZFELDT-JAKOB DISEASE, VARIANT, INCLUDED; vCJD, INCLUDED<br />
CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/369?start=-3&limit=10&highlight=369">
6p21.32
</a>
</span>
</td>
<td>
<span class="mim-font">
{Creutzfeldt-Jakob disease, variant, resistance to}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123400"> 123400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
HLA-DQB1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604305"> 604305 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/69?start=-3&limit=10&highlight=69">
20p13
</a>
</span>
</td>
<td>
<span class="mim-font">
Creutzfeldt-Jakob disease
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123400"> 123400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
PRNP
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176640"> 176640 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/123400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/123400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/123400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Loss of facial expression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852476</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005327</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Diminished visual activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852468&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852468</a>]</span><br /> -
Supranuclear gaze paralysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/420675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">420675003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1720037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1720037</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000605</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000605</a>]</span><br /> -
Gait ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25136009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25136009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R26.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R26.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span><br /> -
Extrapyramidal muscular rigidity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852470&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852470</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007076</a>]</span><br /> -
Cerebellar signs (more common in variant CJD) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0742038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0742038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001317</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001317</a>]</span><br /> -
Memory loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386807006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386807006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48167000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48167000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R41.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R41.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.93" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.93</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002622&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002622</a>, <a href="https://bioportal.bioontology.org/search?q=C0751295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002354" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002354</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002354" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002354</a>]</span><br /> -
Confusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40917007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40917007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/286933003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">286933003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R41.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R41.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009676</a>, <a href="https://bioportal.bioontology.org/search?q=C0683369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0683369</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001289" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001289</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001289" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001289</a>]</span><br /> -
Dementia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
Aphasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87486003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87486003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R47.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R47.01</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003537&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003537</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002381</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002381</a>]</span><br /> -
Hemiparesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20022000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20022000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018989</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001269</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001269</a>]</span><br /> -
Myoclonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17450006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17450006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027066</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span><br /> -
Pathology includes spongiform changes, diffuse nerve cell degeneration and glial proliferation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852472&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852472</a>]</span><br /> -
Brain PrP-immunoreactive amyloid plaques (in 10% if patients with sporadic CJD and in variant CJD) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852473</a>]</span><br /> -
Characteristic periodic EEG complexes (only in sporadic and familial CJD, not in variant CJD) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852474</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Psychiatric abnormalities (more common presentation in variant CJD) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013650</a>]</span><br /> -
Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br /> -
Personality changes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192073007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192073007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/102943000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">102943000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240735</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000751</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000751</a>]</span><br /> -
Irritability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55929007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55929007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022107&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022107</a>, <a href="https://bioportal.bioontology.org/search?q=C2700617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2700617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span><br /> -
Anxiety <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>, <a href="https://bioportal.bioontology.org/search?q=C0003467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003467</a>, <a href="https://bioportal.bioontology.org/search?q=C0860603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span><br /> -
Apathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20602000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20602000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0436596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0436596</a>, <a href="https://bioportal.bioontology.org/search?q=C0085632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000741</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000741</a>]</span><br /> -
Hallucinations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7011001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R44.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R44.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018524</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span><br /> -
Delusions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2073000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2073000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011253&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011253</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000746</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000746</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Normal cerebrospinal fluid <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852477</a>]</span><br /> -
Occasionally mild elevation of CSF protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852478&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852478</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Mean age at onset for sporadic CJD is 60 years (range, 50 to 70 years)<br /> -
Mean age at onset for variant CJD is 29 years (before age 45 years)<br /> -
Rapid progression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span><br /> -
Mean survival 5 months<br /> -
Three forms of CJD: acquired (including variant), sporadic, and inherited<br /> -
Incidence of all forms of CJD is 0.5 to 1.5 per million per year<br /> -
15% cases are familial<br /> -
Most cases are sporadic<br /> -
Patients with variant CJD are homozygous for met129 polymorphism (<a href="/entry/176640#0005">176640.0005</a>)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutations in the prion protein gene (PRNP, <a href="/entry/176640#0001">176640.0001</a>)<br />
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<p>A number sign (#) is used with this entry because familial Creutzfeldt-Jakob disease (CJD) can be caused by heterozygous mutation in the prion protein gene (PRNP; <a href="/entry/176640">176640</a>) on chromosome 20p13.</p><p>Gerstmann-Straussler disease (GSD; <a href="/entry/137440">137440</a>) and familial fatal insomnia (FFI; <a href="/entry/600072">600072</a>) are 2 other allelic inherited prion diseases caused by mutation in the PRNP gene.</p>
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<strong>Description</strong>
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<p>The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and associated with coding mutations in the PRNP gene. Acquired prion diseases include iatrogenic CJD, kuru (<a href="/entry/245300">245300</a>), variant CJD (vCJD) in humans, scrapie in sheep, and bovine spongiform encephalopathy (BSE) in cattle. Variant CJD is believed to be acquired from cattle infected with BSE. However, the majority of human cases of prion disease occur as sporadic CJD (sCJD) (<a href="#16" class="mim-tip-reference" title="Collinge, J., Sidle, K. C. L., Heads, J., Ironside, J., Hill, A. F. &lt;strong&gt;Molecular analysis of prion strain variation and the aetiology of &#x27;new variant&#x27; CJD.&lt;/strong&gt; Nature 383: 685-690, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8878476/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8878476&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/383685a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8878476">Collinge et al., 1996</a>; <a href="#61" class="mim-tip-reference" title="Parchi, P., Zou, W., Wang, W., Brown, P., Capellari, S., Ghetti, B., Kopp, N., Schulz-Schaeffer, W. J., Kretzschmar, H. A., Head, M. W., Ironside, J. W., Gambetti, P., Chen, S. G. &lt;strong&gt;Genetic influence on the structural variations of the abnormal prion protein.&lt;/strong&gt; Proc. Nat. Acad. Sci. 97: 10168-10172, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10963679/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10963679&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10963679[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.97.18.10168&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10963679">Parchi et al., 2000</a>; <a href="#40" class="mim-tip-reference" title="Hill, A. F., Joiner, S., Wadsworth, J. D. F., Sidle, K. C. L., Bell, J. E., Budka, H., Ironside, J. W., Collinge, J. &lt;strong&gt;Molecular classification of sporadic Creutzfeldt-Jakob disease.&lt;/strong&gt; Brain 126: 1333-1346, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12764055/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12764055&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awg125&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12764055">Hill et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12764055+10963679+8878476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#43" class="mim-tip-reference" title="Johnson, R. T., Gibbs, C. J. &lt;strong&gt;Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies.&lt;/strong&gt; New Eng. J. Med. 339: 1994-2004, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9869672/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9869672&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199812313392707&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9869672">Johnson and Gibbs (1998)</a> provided a comprehensive review of Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9869672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#68" class="mim-tip-reference" title="Tyler, K. L. &lt;strong&gt;Creutzfeldt-Jakob disease.&lt;/strong&gt; New Eng. J. Med. 348: 681-682, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12594311/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12594311&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMp020187&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12594311">Tyler (2003)</a> described the characteristics of sporadic CJD as encapsulated by C. Miller Fisher in 1960. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12594311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#42" class="mim-tip-reference" title="Jacob, H., Pyrkosch, W., Strube, H. &lt;strong&gt;Hereditary form of Creutzfeldt-Jakob disease (Backer family).&lt;/strong&gt; Arch. Psychiat. 184: 653-674, 1950.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15433375/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15433375&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00344941&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15433375">Jacob et al. (1950)</a> gave a follow-up on the first reported family, in which members of 3 generations may have been affected. Male-to-male transmission was documented. <a href="#20" class="mim-tip-reference" title="Davidson, C., Rabiner, A. M. &lt;strong&gt;Spastic pseudosclerosis (disseminated encephalomyelopathy: corticopallidospinal degeneration).&lt;/strong&gt; Arch. Neurol. Psychiat. 44: 578-598, 1940."None>Davidson and Rabiner (1940)</a> described 3 affected sibs. <a href="#27" class="mim-tip-reference" title="Friede, R. L., Dejong, R. N. &lt;strong&gt;Neuronal enzymatic failure in Creutzfeldt-Jakob disease: a familial study.&lt;/strong&gt; Arch. Neurol. 10: 181-195, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14088252/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14088252&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1964.00460140067009&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14088252">Friede and Dejong (1964)</a> and later <a href="#52" class="mim-tip-reference" title="May, W. W., Itabashi, H. H., De Jong, R. N. &lt;strong&gt;Creutzfeldt-Jakob disease. II. Clinical, pathologic and genetic study of a family.&lt;/strong&gt; Arch. Neurol. 19: 137-149, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5675300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5675300&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1968.00480020023002&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5675300">May et al. (1968)</a> described an affected father and 3 daughters. Onset was between 38 and 45 years with a short duration of 10 months to 2 years. The disorder began with forgetfulness and nervousness, and progressed to jerky, trembling movements of the hands, loss of facial expression, and unsteady gait. Pathologic findings included severe status spongiosus, diffuse nerve cell degeneration, and some glial proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5675300+15433375+14088252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#64" class="mim-tip-reference" title="Rosenthal, N. P., Keesey, J., Crandall, B., Brown, W. J. &lt;strong&gt;Familial neurological disease associated with spongiform encephalopathy.&lt;/strong&gt; Arch. Neurol. 33: 252-259, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/769760/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;769760&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1976.00500040036005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="769760">Rosenthal et al. (1976)</a> reported a family in which 16 members had a neurologic disease ranging from subacute and chronic dementia to various motor system abnormalities without dementia. Inheritance was autosomal dominant. Although the proband had typical CJD with neuropathologic demonstration of spongiform encephalopathy, a first cousin had chronic dementia without spongiform changes. Both patients had PAS-positive, eosinophilic plaques throughout the brain. The authors suggested that susceptibility for neurologic disease in this family was inherited as an autosomal dominant trait. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=769760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Buge, A., Escourolle, R., Brion, S., Rancurel, G., Hauw, J. J., Mehaut, M., Gray, F., Gajdusek, D. C. &lt;strong&gt;[Familial Creutzfeldt-Jakob disease: a clinical and pathological study of three cases in a family with eight affected members in three generations].&lt;/strong&gt; Rev. Neurol. 134: 165-181, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/100844/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;100844&lt;/a&gt;]" pmid="100844">Buge et al. (1978)</a> reported a family in which 8 members spanning 3 generations had CJD. The family originated from southeast England and settled in France in 1870. <a href="#14" class="mim-tip-reference" title="Cathala, F., Chatelain, J., Brown, P., Dumas, M., Gajdusek, D. C. &lt;strong&gt;Familial Creutzfeldt Jakob disease: autosomal dominance in 14 members over 3 generations.&lt;/strong&gt; J. Neurol. Sci. 47: 343-351, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6999131/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6999131&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0022-510x(80)90087-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6999131">Cathala et al. (1980)</a> identified a second affected branch of the family reported by <a href="#11" class="mim-tip-reference" title="Buge, A., Escourolle, R., Brion, S., Rancurel, G., Hauw, J. J., Mehaut, M., Gray, F., Gajdusek, D. C. &lt;strong&gt;[Familial Creutzfeldt-Jakob disease: a clinical and pathological study of three cases in a family with eight affected members in three generations].&lt;/strong&gt; Rev. Neurol. 134: 165-181, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/100844/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;100844&lt;/a&gt;]" pmid="100844">Buge et al. (1978)</a>, bringing the total number of people affected to 14. The pattern of inheritance was clearly autosomal dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6999131+100844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bertoni, J. M., Label, L. S., Sackelleres, J. C., Hicks, S. P. &lt;strong&gt;Supranuclear gaze palsy in familial Creutzfeldt-Jakob disease.&lt;/strong&gt; Arch. Neurol. 40: 618-622, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6351815/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6351815&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1983.04050090054008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6351815">Bertoni et al. (1983)</a> reported 7 individuals with CJD in 3 generations of a large kindred. They pointed out that 3 of 4 patients studied in detail were first observed with supranuclear gaze paralysis, gait ataxia, and rapidly progressive dementia. Most of the affected persons were farmers. In a Chilean family, <a href="#12" class="mim-tip-reference" title="Cartier, L., Galvez, S., Gajdusek, D. C. &lt;strong&gt;Familial clustering of the ataxic form of Creutzfeldt-Jakob disease with Hirano bodies.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 48: 234-238, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2984334/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2984334&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp.48.3.234&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2984334">Cartier et al. (1985)</a> described a brother and sister and possibly a third sib who had an unusual form of Creutzfeldt-Jakob disease with prominent ataxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6351815+2984334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Brown, P., Rodgers-Johnson, P., Cathala, F., Gibbs, C. J., Jr., Gajdusek, D. C. &lt;strong&gt;Creutzfeldt-Jakob disease of long duration: clinicopathological characteristics, transmissibility, and differential diagnosis.&lt;/strong&gt; Ann. Neurol. 16: 295-304, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6385823/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6385823&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410160305&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6385823">Brown et al. (1984)</a> found that 5 to 10% of CJD patients had a relatively long course lasting more than 2 years. Of this group, approximately 30% had familial disease. In addition, they had a younger age at onset (average, 48 years), and lower frequency of myoclonus (79%) and periodic EEG activity (45%) than unselected cases. The longest course was 13 years in a case proved by transmissibility. Of 225 transmitted cases, 15 (7%) had a prolonged course. The incubation period and duration of illness after injection into primates bore no relation to the duration of illness in patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6385823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a consecutive series of 230 patients with neuropathologically verified CJD, <a href="#7" class="mim-tip-reference" title="Brown, P., Cathala, F., Castaigne, P., Gajdusek, D. C. &lt;strong&gt;Creutzfeldt-Jakob disease: clinical analysis of a consecutive series of 230 neuropathologically verified cases.&lt;/strong&gt; Ann. Neurol. 20: 597-602, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3539001/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3539001&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410200507&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3539001">Brown et al. (1986)</a> found that men and women were affected about equally with a mean age of onset of 61.5 years. Familial cases accounted for 4 to 8% of the series. Most of the early neurologic symptoms were cerebellar or visual. Extrapyramidal muscular rigidity, myoclonus, and characteristic periodic EEG complexes were observed comparatively late. The median duration of illness was 4 months and the mean was 7.6 months; 90% of patients died within a year of onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3539001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Variant Creutzfeldt-Jakob Disease (vCJD)</em></strong></p><p>
<a href="#70" class="mim-tip-reference" title="Will, R. G., Ironside, J. W., Zeidler, M., Cousens, S. N., Estibeiro, K., Alperovitch, A., Poser, S., Pocchiari, M., Hofman, A., Smith, P. G. &lt;strong&gt;A new variant of Creutzfeldt-Jakob disease in the UK.&lt;/strong&gt; Lancet 347: 921-925, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8598754/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8598754&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(96)91412-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8598754">Will et al. (1996)</a> reported a 'new variant' of CJD in the UK. Ten of 270 cases of CJD ascertained in the UK since 1990 had clinical and neuropathologic findings that distinguished them from the other cases. Disease onset in these cases occurred between 1994 and 1995. Age at onset ranged from 16 to 39 years, with a mean of 29 years, and duration ranged from 7.5 to 22.5 months. Nine of the patients had behavioral changes as an early feature and were referred to a psychiatrist. Three patients had dysesthesias as the presenting symptom, 9 developed ataxia early in the disease, 7 developed myoclonus late in the disease course, and 3 had choreoathetosis. All patients eventually developed dementia. None of the cases had EEG features usually associated with CJD. Neuropathologic examination showed spongiform changes, neuronal loss, and gliosis most notably in the basal ganglia and thalamus, although all areas of the cerebral cortex were also affected. All cases had diffuse localization of PrP-positive plaques resembling those seen in kuru. <a href="#70" class="mim-tip-reference" title="Will, R. G., Ironside, J. W., Zeidler, M., Cousens, S. N., Estibeiro, K., Alperovitch, A., Poser, S., Pocchiari, M., Hofman, A., Smith, P. G. &lt;strong&gt;A new variant of Creutzfeldt-Jakob disease in the UK.&lt;/strong&gt; Lancet 347: 921-925, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8598754/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8598754&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(96)91412-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8598754">Will et al. (1996)</a> suggested a link between the new variant CJD and bovine spongiform encephalopathy. All 8 cases genotyped were homozygous for the met129 polymorphism in the PRNP gene (<a href="/entry/176640#0005">176640.0005</a>) and had no other PRNP mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8598754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Deslys, J.-P., Lasmezas, C. I., Streichenberger, N., Hill, A., Collinge, J., Dormont, D., Kopp, N. &lt;strong&gt;New variant Creutzfeldt-Jakob disease in France.&lt;/strong&gt; Lancet 349: 30-31, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8988126/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8988126&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(05)62163-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8988126">Deslys et al. (1997)</a> found that a French patient with new variant CJD first reported by <a href="#15" class="mim-tip-reference" title="Chazot, G., Broussolle, E., Lapras, C., Blatter, T., Aguzzi, A., Kopp, N. &lt;strong&gt;New variant of Creutzfeldt-Jakob disease in a 26-year-old French man.&lt;/strong&gt; Lancet 347: 1181 only, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8609775/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8609775&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(96)90638-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8609775">Chazot et al. (1996)</a> had PrP immunostaining and electrophoretic patterns similar to those seen in vCJD patients from the UK, suggesting that vCJD is a unique, and homogeneous, disease variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8609775+8988126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of clinical, genetic, neuropathologic, and biochemical data of 23 French patients and 162 British patients with vCJD, <a href="#6" class="mim-tip-reference" title="Brandel, J.-P., Heath, C. A., Head, M. W., Levavasseur, E., Knight, R., Laplanche, J.-L., Langeveld, J. P. M., Ironside, J. W., Hauw, J.-J., Mackenzie, J., Alperovitch, A., Will, R. G., Haik, S. &lt;strong&gt;Variant Creutzfeldt-Jakob disease in France and the United Kingdom: evidence for the same agent strain.&lt;/strong&gt; Ann. Neurol. 65: 249-256, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19334063/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19334063&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21583&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19334063">Brandel et al. (2009)</a> concluded that almost all data were similar, indicating a common infectious strain. The only difference was age at onset, which was delayed by about 8 years in French patients; disease duration was the same between the 2 populations. All of the 23 French patients and all tested British patients were homozygous for met129. Western blot analysis in the 2 groups of patients showed a type 2B PRNP isoform. The findings suggested that the French vCJD was related to imported contaminated beef products from the UK. <a href="#6" class="mim-tip-reference" title="Brandel, J.-P., Heath, C. A., Head, M. W., Levavasseur, E., Knight, R., Laplanche, J.-L., Langeveld, J. P. M., Ironside, J. W., Hauw, J.-J., Mackenzie, J., Alperovitch, A., Will, R. G., Haik, S. &lt;strong&gt;Variant Creutzfeldt-Jakob disease in France and the United Kingdom: evidence for the same agent strain.&lt;/strong&gt; Ann. Neurol. 65: 249-256, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19334063/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19334063&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21583&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19334063">Brandel et al. (2009)</a> postulated that the later age of onset and death among French patients resulted from a difference in exposure or dietary habits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19334063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Heidenhain Variant</em></strong></p><p>
<a href="#39" class="mim-tip-reference" title="Heidenhain, A. &lt;strong&gt;Klinische und anatomische Untersuchungen uber eine eigenartige organische Erkrankung des Zentralnervensystems im Praesenium.&lt;/strong&gt; Z. Gesamte Neurologie Psychiatrie. 118: 49-114, 1928."None>Heidenhain (1928)</a> reported a variant of sporadic CJD in which patients had prominent early visual symptoms. The term 'Heidenhain variant' has since been used to refer to cases in which visual symptoms occur along with otherwise characteristic features of CJD (<a href="#19" class="mim-tip-reference" title="Cooper, S. A., Murray, K. L., Heath, C. A., Will, R. G., Knight, R. S. G. &lt;strong&gt;Isolated visual symptoms at onset in sporadic Creutzfeldt-Jakob disease: the clinical phenotype of the &#x27;Heidenhain variant&#x27;.&lt;/strong&gt; Brit. J. Ophthal. 89: 1341-1342, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16170128/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16170128&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.2005.074856&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16170128">Cooper et al., 2005</a>). In a retrospective review of 594 pathologically proven cases of sCJD, <a href="#19" class="mim-tip-reference" title="Cooper, S. A., Murray, K. L., Heath, C. A., Will, R. G., Knight, R. S. G. &lt;strong&gt;Isolated visual symptoms at onset in sporadic Creutzfeldt-Jakob disease: the clinical phenotype of the &#x27;Heidenhain variant&#x27;.&lt;/strong&gt; Brit. J. Ophthal. 89: 1341-1342, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16170128/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16170128&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.2005.074856&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16170128">Cooper et al. (2005)</a> identified 22 cases with isolated visual symptoms at onset. The mean age at disease onset was 67 years, and the mean illness duration was 4 months. Seventeen (77%) were first referred to an ophthalmologist for symptoms including decreased visual acuity, blurred vision, peripheral visual field defect, visual distortions, and impaired color vision. Two had cataract surgery. Most patients showed myoclonus, pyramidal signs, and a delay in onset of dementia for several weeks. All 16 tested cases were homozygous for met129. <a href="#19" class="mim-tip-reference" title="Cooper, S. A., Murray, K. L., Heath, C. A., Will, R. G., Knight, R. S. G. &lt;strong&gt;Isolated visual symptoms at onset in sporadic Creutzfeldt-Jakob disease: the clinical phenotype of the &#x27;Heidenhain variant&#x27;.&lt;/strong&gt; Brit. J. Ophthal. 89: 1341-1342, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16170128/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16170128&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.2005.074856&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16170128">Cooper et al. (2005)</a> noted the diagnostic difficulties associated with this group of patients and emphasized the risk of transmission due to ocular intervention before correct diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16170128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#46" class="mim-tip-reference" title="Keyrouz, S. G., Labib, B. T., Sethi, R. &lt;strong&gt;MRI and EEG findings in Heidenhain variant of Creutzfeldt-Jakob disease.&lt;/strong&gt; Neurology 67: 333 only, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16864833/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16864833&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000208487.18608.41&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16864833">Keyrouz et al. (2006)</a> reported a 51-year-old woman who presented with rapidly progressive memory loss, language impairment, and difficulty performing routine activities. She had previously been in a psychiatric ward for visual hallucinations and abnormal behavior. Other features included cortical blindness, spasticity with hyperreflexia, and myoclonic jerks. CSF 14-3-3 protein was increased. She died 4 months later. <a href="#46" class="mim-tip-reference" title="Keyrouz, S. G., Labib, B. T., Sethi, R. &lt;strong&gt;MRI and EEG findings in Heidenhain variant of Creutzfeldt-Jakob disease.&lt;/strong&gt; Neurology 67: 333 only, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16864833/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16864833&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000208487.18608.41&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16864833">Keyrouz et al. (2006)</a> concluded that she had the Heidenhain variant of CJD, which was characterized by pronounced hyperintensities in the occipital lobes on diffusion-weighted brain MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16864833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#67" class="mim-tip-reference" title="Stoeck, K., Bodemer, M., Ciesielczyk, B., Meissner, B., Bartl, M., Heinemann, U., Zerr, I. &lt;strong&gt;Interleukin 4 and interleukin 10 levels are elevated in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease.&lt;/strong&gt; Arch. Neurol. 62: 1591-1594, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16216944/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16216944&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.62.10.1591&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16216944">Stoeck et al. (2005)</a> observed significantly increased cerebrospinal fluid levels of the antiinflammatory cytokine IL10 (<a href="/entry/124092">124092</a>) in 20 patients with sporadic CJD compared to patients with other forms of dementia, motoneuron disease, normal pressure hydrocephalus, and normal controls. Patients with CJD also had increased levels of IL4 (<a href="/entry/147780">147780</a>) compared to patients with motoneuron disease, normal pressure hydrocephalus, and controls, but not compared to other forms of dementia. The findings suggested that these cytokines may modulate the neurodegenerative process in CJD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16216944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Bockman, J. M., Kingsbury, D. T., McKinley, M. P., Bendheim, P. E., Prusiner, S. B. &lt;strong&gt;Creutzfeldt-Jakob disease prion proteins in human brains.&lt;/strong&gt; New Eng. J. Med. 312: 73-78, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3917302/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3917302&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198501103120202&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3917302">Bockman et al. (1985)</a> found that purified fractions from the brains of 2 patients with CJD contained protease-resistant proteins ranging in molecular mass from 10 to 50 kD. These proteins reacted with antibodies raised against the scrapie prion protein PrP 27-30. Rod-shaped particles found in the brain tissue of the patients were similar to those from rodents with either scrapie or experimental CJD. After staining with Congo red dye, the protein polymers from patients with CJD showed green birefringence under polarized light. <a href="#5" class="mim-tip-reference" title="Bockman, J. M., Kingsbury, D. T., McKinley, M. P., Bendheim, P. E., Prusiner, S. B. &lt;strong&gt;Creutzfeldt-Jakob disease prion proteins in human brains.&lt;/strong&gt; New Eng. J. Med. 312: 73-78, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3917302/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3917302&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198501103120202&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3917302">Bockman et al. (1985)</a> suggested that the amyloid plaques of CJD were paracrystalline arrays of prions similar to those found in scrapie-infected hamsters (<a href="#21" class="mim-tip-reference" title="DeArmond, S. J., McKinley, M. P., Barry, R. A., Braunfeld, M. B., McColloch, J. R., Prusiner, S. B. &lt;strong&gt;Identification of prion amyloid filaments in scrapie-infected brain.&lt;/strong&gt; Cell 41: 221-235, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3922627/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3922627&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(85)90076-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3922627">DeArmond et al., 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3917302+3922627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Based on their studies in PrP-null mice, <a href="#17" class="mim-tip-reference" title="Collinge, J., Whittington, M., Sidle, K. C. L., Smith, C. J., Palmer, M. S., Clarke, A. R., Jefferys, J. G. R. &lt;strong&gt;Prion protein is necessary for normal synaptic function. (Letter)&lt;/strong&gt; Nature 370: 295-297, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8035877/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8035877&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/370295a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8035877">Collinge et al. (1994)</a> concluded that prion protein is necessary for normal synaptic function. They postulated that inherited prion disease may result from a dominant-negative effect with generation of PrP(Sc), the posttranslationally modified form of cellular PrPc, ultimately leading to progressive loss of functional PrPc. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8035877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Miele, G., Manson, J., Clinton, M. &lt;strong&gt;A novel erythroid-specific marker of transmissible spongiform encephalopathies.&lt;/strong&gt; Nature Med. 7: 361-364, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11231637/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11231637&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/85515&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11231637">Miele et al. (2001)</a> demonstrated that a dramatic decrease in expression of a transcript specific to the erythroid lineage cells (EDRF; <a href="/entry/605821">605821</a>) is a common feature of transmissible spongiform encephalopathies (TSEs). <a href="#55" class="mim-tip-reference" title="Miele, G., Manson, J., Clinton, M. &lt;strong&gt;A novel erythroid-specific marker of transmissible spongiform encephalopathies.&lt;/strong&gt; Nature Med. 7: 361-364, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11231637/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11231637&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/85515&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11231637">Miele et al. (2001)</a> suggested a previously unrecognized role for involvement of the erythroid lineage in the etiology of TSE pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11231637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Head, M. W., Northcott, V., Rennison, K., Ritchie, D., McCardle, L., Bunn, T. J. R., McLennan, N. F., Ironside, J. W., Tullo, A. B., Bonshek, R. E. &lt;strong&gt;Prion protein accumulation in eyes of patients with sporadic and variant Creutzfeldt-Jakob disease.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 44: 342-346, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12506094/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12506094&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.01-1273&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12506094">Head et al. (2003)</a> found that presumptive centrifugal spread of PrP(Sc) from the brain through the optic nerve occurred in both sporadic and variant CJD. Given that routine decontamination might not remove PrP(Sc) from surgical instruments, the authors proposed that a careful risk assessment be made of possible iatrogenic spread of sporadic and variant CJD after surgery on the retina or optic nerve. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12506094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#72" class="mim-tip-reference" title="Zanusso, G., Ferrari, S., Cardone, F., Zampieri, P., Gelati, M., Fiorini, M., Farinazzo, A., Gardiman, M., Cavallaro, T., Bentivoglio, M., Righetti, P. G., Pocchiari, M., Rizzuto, N., Monaco, S. &lt;strong&gt;Detection of pathologic prion protein in the olfactory epithelium in sporadic Creutzfeldt-Jakob disease.&lt;/strong&gt; New Eng. J. Med. 348: 711-719, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12594315/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12594315&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa022043&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12594315">Zanusso et al. (2003)</a> studied 9 patients with neuropathologically confirmed sporadic CJD and found that PrP(Sc) was present in olfactory cilia and central olfactory pathway, but not in the respiratory mucosa. They concluded that olfactory biopsy may prove diagnostically useful, and that the olfactory pathway may represent a route of infection and a means of spreading prions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12594315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#73" class="mim-tip-reference" title="Zanusso, G., Polo, A., Farinazzo, A., Nonno, R., Cardone, F., Di Bari, M., Ferrari, S., Principe, S., Gelati, M., Fasoli, E., Fiorini, M., Prelli, F., and 10 others. &lt;strong&gt;Novel prion protein conformation and glycotype in Creutzfeldt-Jakob disease.&lt;/strong&gt; Arch. Neurol. 64: 595-599, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17420324/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17420324&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.64.4.595&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17420324">Zanusso et al. (2007)</a> reported an atypical case of sCJD associated with a novel prion protein conformation. The patient was a 69-year-old woman with rapid progression of behavioral disturbances and dementia, resulting in akinetic mutism and death approximately 13 months after disease onset. Postmortem examination showed spongiform degeneration, intracellular prion protein deposition, and axonal swellings filled with Prp-positive fibrils. Biochemical analysis detected a novel prion protein tertiary structure, which was predominantly unglycosylated. No mutation in the PRNP gene was found, and all bank voles inoculated with brain suspension from the patient developed disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17420324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Prion incubation periods in experimental animals vary inversely with expression level of cellular prion protein. <a href="#65" class="mim-tip-reference" title="Sandberg, M. K., Al-Doujaily, H., Sharps, B., Clarke, A. R., Collinge, J. &lt;strong&gt;Prion propagation and toxicity in vivo occur in two distinct mechanistic phases.&lt;/strong&gt; Nature 470: 540-542, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21350487/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21350487&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature09768&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21350487">Sandberg et al. (2011)</a> demonstrated that prion propagation in brain proceeds via 2 distinct phases: a clinically silent exponential phase not rate-limited by prion protein concentration that rapidly reaches a maximal prion titer, followed by a distinct switch to a plateau phase. The latter determines time to clinical onset in a manner inversely proportional to prion protein concentration. These findings demonstrated an uncoupling of infectivity and toxicity. <a href="#65" class="mim-tip-reference" title="Sandberg, M. K., Al-Doujaily, H., Sharps, B., Clarke, A. R., Collinge, J. &lt;strong&gt;Prion propagation and toxicity in vivo occur in two distinct mechanistic phases.&lt;/strong&gt; Nature 470: 540-542, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21350487/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21350487&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nature09768&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21350487">Sandberg et al. (2011)</a> suggested that prions themselves are not neurotoxic but catalyze the formation of such species from PrPC. Production of neurotoxic species is triggered when prion propagation saturates, leading to a switch from autocatalytic production of infectivity (phase 1) to a toxic (phase 2) pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21350487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Variant Creutzfeldt-Jakob Disease (vCJD)</em></strong></p><p>
<a href="#16" class="mim-tip-reference" title="Collinge, J., Sidle, K. C. L., Heads, J., Ironside, J., Hill, A. F. &lt;strong&gt;Molecular analysis of prion strain variation and the aetiology of &#x27;new variant&#x27; CJD.&lt;/strong&gt; Nature 383: 685-690, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8878476/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8878476&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/383685a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8878476">Collinge et al. (1996)</a> reported that 'new variant' CJD (vCJD) is associated with the unique and highly consistent appearance of protease-resistant PrP on Western blots involving a characteristic pattern of glycosylation. They also reported that transmission of CJD to inbred mice produced a PrP(Sc) pattern characteristic of the inoculated CJD. Transmission of bovine spongiform encephalopathy (BSE) prion produced a glycoform ratio pattern of PrP closely similar to that of new variant CJD. They found that the PrP(Sc) from experimental BSE in macaques and naturally acquired BSE in domestic cats showed a glycoform pattern indistinguishable from that of experimental murine BSE and new variant CJD. The report of <a href="#16" class="mim-tip-reference" title="Collinge, J., Sidle, K. C. L., Heads, J., Ironside, J., Hill, A. F. &lt;strong&gt;Molecular analysis of prion strain variation and the aetiology of &#x27;new variant&#x27; CJD.&lt;/strong&gt; Nature 383: 685-690, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8878476/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8878476&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/383685a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8878476">Collinge et al. (1996)</a> was reviewed by <a href="#1" class="mim-tip-reference" title="Aguzzi, A., Weissmann, C. &lt;strong&gt;A suspicious signature.&lt;/strong&gt; Nature 383: 666-667, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8878470/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8878470&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/383666a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8878470">Aguzzi and Weissmann (1996)</a>, who concluded that <a href="#16" class="mim-tip-reference" title="Collinge, J., Sidle, K. C. L., Heads, J., Ironside, J., Hill, A. F. &lt;strong&gt;Molecular analysis of prion strain variation and the aetiology of &#x27;new variant&#x27; CJD.&lt;/strong&gt; Nature 383: 685-690, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8878476/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8878476&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/383685a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8878476">Collinge et al. (1996)</a> had provided further evidence that the BSE agent has been transmitted to man. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8878470+8878476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 patients with vCJD, <a href="#36" class="mim-tip-reference" title="Haik, S., Faucheux, B. A., Sazdovitch, V., Privat, N., Kemeny, J.-L., Perret-Liaudet, A., Hauw, J.-J. &lt;strong&gt;The sympathetic nervous system is involved in variant Creutzfeldt-Jakob disease.&lt;/strong&gt; Nature Med. 9: 1121-1122, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12937415/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12937415&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm922&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12937415">Haik et al. (2003)</a> found pathologic accumulation of PrP(Sc) in neurons of the sympathetic ganglia of the autonomic nervous system, including the celiac, superior mesenteric, and stellate ganglia. No PrP(Sc) was detected in the corresponding ganglia from sporadic or iatrogenic cases of CJD. Consistent with these observations, the Western blot pattern of PrP(Sc) in vCJD showed migration of a 19-kD protein, which is specific to vCJD. <a href="#36" class="mim-tip-reference" title="Haik, S., Faucheux, B. A., Sazdovitch, V., Privat, N., Kemeny, J.-L., Perret-Liaudet, A., Hauw, J.-J. &lt;strong&gt;The sympathetic nervous system is involved in variant Creutzfeldt-Jakob disease.&lt;/strong&gt; Nature Med. 9: 1121-1122, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12937415/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12937415&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/nm922&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12937415">Haik et al. (2003)</a> concluded that the sympathetic nervous system is involved in the pathogenesis of vCJD and suggested a role for gut-associated sympathetic neurons in prion propagation after oral contamination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12937415" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#68" class="mim-tip-reference" title="Tyler, K. L. &lt;strong&gt;Creutzfeldt-Jakob disease.&lt;/strong&gt; New Eng. J. Med. 348: 681-682, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12594311/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12594311&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMp020187&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12594311">Tyler (2003)</a> reviewed the clinical findings in cases of variant CJD, which differed dramatically from those in sporadic cases. The recognition that patients with new variant CJD have CJD prions in extraneural sites, including lymphoreticular tissues, led to the use of tonsil biopsy as an important diagnostic test. Similarly detectable lymphoreticular reservoirs were not present in sporadic cases of CJD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12594311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p><a href="#51" class="mim-tip-reference" title="Masters, C. L., Harris, J. O., Gajdusek, D. C., Gibbs, C. J., Jr., Bernoulli, C., Asher, D. M. &lt;strong&gt;Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering.&lt;/strong&gt; Ann. Neurol. 5: 177-188, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/371520/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;371520&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410050212&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="371520">Masters et al. (1979)</a> found that about 15% of CJD cases are familial. From a study of 73 families, <a href="#50" class="mim-tip-reference" title="Masters, C. L., Gajdusek, D. C., Gibbs, C. J., Jr. &lt;strong&gt;The familial occurrence of Creutzfeldt-Jakob disease and Alzheimer&#x27;s disease.&lt;/strong&gt; Brain 104: 535-558, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7023604/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7023604&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/104.3.535&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7023604">Masters et al. (1981)</a> concluded that 15% of cases of CJD have a family history consistent with autosomal dominant transmission. Onset of disease was significantly earlier in familial cases. Temporal and spatial separations between affected relatives suggested that incubation periods ranged at least from 1 to 4 decades. Affected sibs tended to die at the same age and not at the same time. In 4 families, CJD occurred in members related by marriage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7023604+371520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#56" class="mim-tip-reference" title="Minikel, E. V., Zerr, I., Collins, S. J., Ponto, C., Boyd, A., Klug, G., Karch, A., Kenny, J., Collinge, J., Takada, L. T., Forner, S., Fong, J. C., Mead, S., Geschwind, M. D. &lt;strong&gt;Ascertainment bias causes false signal of anticipation in genetic prion disease.&lt;/strong&gt; Am. J. Hum. Genet. 95: 371-382, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25279981/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25279981&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25279981[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2014.09.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25279981">Minikel et al. (2014)</a> found no evidence for genetic anticipation among 217 individuals with CJD due to the PRNP E200K mutation (<a href="/entry/176640#0006">176640.0006</a>). The authors concluded that any reports of anticipation in genetic prion disease result from ascertainment bias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25279981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Transmission</em></strong></p><p>
<a href="#30" class="mim-tip-reference" title="Gibbs, C. J., Jr., Gajdusek, D. C., Asher, D. M., Alpers, M. P., Beck, E., Daniel, P. M., Matthews, W. B. &lt;strong&gt;Creutzfeldt-Jakob disease (spongiform encephalopathy): transmission to the chimpanzee.&lt;/strong&gt; Science 161: 388-389, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5661299/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5661299&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.161.3839.388&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5661299">Gibbs et al. (1968)</a> reported a transmissible agent that reproduced CJD in a chimpanzee injected with brain material from a 59-year-old English male with CJD. <a href="#26" class="mim-tip-reference" title="Ferber, R. A., Wiesenfeld, S. L., Roos, R. P., Bobowick, A. R., Gibbs, C. J., Jr., Gajdusek, D. C. &lt;strong&gt;Familial Creutzfeldt-Jakob disease: transmission of the familial disease to primates.In: Subirana, A.; Espadaler, J. M.; Burrows, E. H. (eds.) : Proc. 10th Int. Cong. of Neurology, Barcelona, Sept. 8-15, 1973.&lt;/strong&gt; Amsterdam: Excerpta Medica (pub.) 1974. Pp. 358-380."None>Ferber et al. (1974)</a> succeeded in transmitting the familial disease to the chimpanzee where the findings were the same as those from transmission of the sporadic disease. One of the families studied by <a href="#28" class="mim-tip-reference" title="Gajdusek, D. C. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Bethesda, Md. 1973."None>Gajdusek (1973)</a> had 14 affected members. The disease from 1 of these patients was transmitted to the chimpanzee. <a href="#76" class="mim-tip-reference" title="Zlotnik, I., Grant, D. P., Dayan, A. D., Earl, C. J. &lt;strong&gt;Transmission of Creutzfeldt-Jakob disease from man to squirrel monkey.&lt;/strong&gt; Lancet 304: 435-438, 1974. Note: Originally Volume 2.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4137331/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4137331&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(74)91818-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4137331">Zlotnik et al. (1974)</a> transmitted the disease to the squirrel monkey. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5661299+4137331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Haltia, M., Kovanen, J., van Crevel, H., Bots, G. T. A. M., Stefanko, S. &lt;strong&gt;Familial Creutzfeldt-Jakob disease.&lt;/strong&gt; J. Neurol. Sci. 42: 381-389, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/390100/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;390100&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0022-510x(79)90171-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="390100">Haltia et al. (1979)</a> reported on 9 cases in 3 generations of a Finnish family. They raised the possibility of genomic integration of a virus, although in light of subsequent discoveries of transmission via abnormal prion protein, this now seems unlikely (<a href="#62" class="mim-tip-reference" title="Prusiner, S. B., Hsiao, K. K. &lt;strong&gt;Human prion diseases.&lt;/strong&gt; Ann. Neurol. 35: 385-395, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8154865/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8154865&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410350404&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8154865">Prusiner and Hsiao, 1994</a>). Transmission through males and occurrence in only one of a pair of twins argued against transplacental passage or transmission via mother's milk. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=390100+8154865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Person-to-person transmission through a corneal transplant was suggested by the experience reported by <a href="#25" class="mim-tip-reference" title="Duffy, P. E., Wolf, J., Collins, G., DeVoe, A. G., Streeten, B., Cowen, D. &lt;strong&gt;Possible person-to-person transmission of Creutzfeldt-Jakob disease. (Letter)&lt;/strong&gt; New Eng. J. Med. 290: 692-693, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4591849/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4591849&lt;/a&gt;]" pmid="4591849">Duffy et al. (1974)</a>. The transmission through cadaver-derived human growth hormone and through transplants, homografts, and surgical instruments was referred to as 'friendly fire' in medicine by <a href="#9" class="mim-tip-reference" title="Brown, P., Preece, M. A., Will, R. G. &lt;strong&gt;&#x27;Friendly fire&#x27; in medicine: hormones, homografts, and Creutzfeldt-Jakob disease.&lt;/strong&gt; Lancet 340: 24-27, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1351607/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1351607&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(92)92431-e&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1351607">Brown et al. (1992)</a>. <a href="#48" class="mim-tip-reference" title="Laurenson, I. F., Whyte, A. S., Fox, C., Babb, J. R. &lt;strong&gt;Contaminated surgical instruments and variant Creutzfeldt-Jakob disease. (Letter)&lt;/strong&gt; Lancet 354: 1823 only, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10577671/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10577671&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(05)70594-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10577671">Laurenson et al. (1999)</a> reported a study supporting the hypothesis that surgical procedures may serve as unrecognized contamination events (<a href="#18" class="mim-tip-reference" title="Collins, S., Law, M. G., Fletcher, A., Boyd, A., Kaldor, J., Masters, C. L. &lt;strong&gt;Surgical treatment and risk of sporadic Creutzfeldt-Jakob disease: a case-control study.&lt;/strong&gt; Lancet 353: 693-697, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10073510/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10073510&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(98)08138-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10073510">Collins et al., 1999</a>) and account for a proportion of cases of CJD. Because prions exhibit an unusual resistance to conventional chemical and thermal decontamination methods, surgical instruments must be promptly and effectively cleaned before thermal or chemical disinfections or sterilization. The authors summarized the causes of cleaning failures and proposed effective preventive measures. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1351607+4591849+10073510+10577671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Brown, P., Cervenakova, L., Goldfarb, L. G., McCombie, W. R., Rubenstein, R., Will, R. G., Pocchiari, M., Martinez-Lage, J. F., Scalici, C., Masullo, C., Graupera, G., Ligan, J., Gajdusek, D. C. &lt;strong&gt;Iatrogenic Creutzfeldt-Jakob disease: an example of the interplay between ancient genes and modern medicine.&lt;/strong&gt; Neurology 44: 291-293, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8309577/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8309577&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.44.2.291&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8309577">Brown et al. (1994)</a> tested 15 cases of iatrogenic CJD that represented central infection (from dura mater or corneal homografts and stereotactic EEG electrodes), 11 cases peripherally infected (from native human growth hormone or gonadotropin), and 110 control individuals for the presence of mutations in the chromosome 20 amyloid gene (as that group terms the prion gene). No patient or control had any of the known pathogenic point or insertional mutations found in the familial disease, but allelic homozygosity at the PRNP met129val polymorphism (<a href="/entry/176640#0005">176640.0005</a>) was present in all but 2 (92%) of the 26 patients, compared with 54 (50%) of the 110 controls (p less than 0.001). Pooled data from all identified and tested cases of iatrogenic disease yielded a worldwide total of 56 patients, of whom all but 4 were homozygous at codon 129 (p less than 0.001). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8309577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#74" class="mim-tip-reference" title="Zerr, I., Kallenberg, K., Summers, D. M., Romero, C., Taratuto, A., Heinemann, U., Breithaupt, M., Varges, D., Meissner, B., Ladogana, A., Schuur, M., Haik, S., and 15 others. &lt;strong&gt;Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease.&lt;/strong&gt; Brain 132: 2659-2668, 2009. Note: Erratum: Brain 135: 1335 only, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19773352/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19773352&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awp191&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19773352">Zerr et al. (2009)</a> assessed the diagnostic accuracy of brain MRI by evaluating 436 patients with sporadic Creutzfeldt-Jakob disease and 141 controls from 12 countries. The optimum diagnostic accuracy in the differential diagnosis of rapidly progressive dementia due to sCJD was obtained when either at least 2 cortical regions (temporal, parietal, or occipital) or both caudate nucleus and putamen displayed a high signal in fluid attenuated inversion recovery (FLAIR) or diffusion-weight imaging (DWI) MRI. These MRI findings were positive in 83% of cases. <a href="#74" class="mim-tip-reference" title="Zerr, I., Kallenberg, K., Summers, D. M., Romero, C., Taratuto, A., Heinemann, U., Breithaupt, M., Varges, D., Meissner, B., Ladogana, A., Schuur, M., Haik, S., and 15 others. &lt;strong&gt;Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease.&lt;/strong&gt; Brain 132: 2659-2668, 2009. Note: Erratum: Brain 135: 1335 only, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19773352/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19773352&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awp191&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19773352">Zerr et al. (2009)</a> proposed an amendment to the clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease to include specific brain MRI findings in addition to characteristic periodic sharp wave complexes on EEG and 14-3-3 protein detection in the CSF. In all definite cases, the amended criteria would be positive in 98% of cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19773352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>As part of a large prospective study, <a href="#49" class="mim-tip-reference" title="Lee, H., Rosenmann, H., Chapman, J., Kingsley, P. B., Hoffmann, C., Cohen, O. S., Kahana, E., Korczyn, A. D., Prohovnik, I. &lt;strong&gt;Thalamo-striatal diffusion reductions precede disease onset in prion mutation carriers.&lt;/strong&gt; Brain 132: 2680-2687, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19321460/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19321460&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19321460[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awp064&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19321460">Lee et al. (2009)</a> analyzed early diffusion MRI scans of 14 patients with CJD due to the E200K mutation (<a href="/entry/176640#0006">176640.0006</a>), 20 healthy mutation carriers, and 20 controls, and they found that both patients and mutation carriers had significantly reduced diffusion in the thalamostriatal network, comprising the putamen and mediodorsal, ventrolateral, and pulvinar thalamic nuclei. With disease onset, these diffusion reductions intensified but did not spread to other brain regions, except for also affecting the caudate. These findings indicated that cerebral diffusion reductions can be detected early in the course of CJD, even years before symptomatic onset in mutation carriers. In addition, the results suggested that the thalamostriatal network is involved in the pathogenesis of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19321460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<p>In affected members of a family with inherited Creutzfeldt-Jakob disease, Owen et al. (<a href="#57" class="mim-tip-reference" title="Owen, F., Poulter, M., Lofthouse, R., Collinge, J., Crow, T. J., Risby, D., Baker, H. F., Ridley, R. M., Hsiao, K., Prusiner, S. B. &lt;strong&gt;Insertion in prion protein gene in familial Creutzfeldt-Jakob disease. (Letter)&lt;/strong&gt; Lancet 333: 51-52, 1989. Note: Originally Volume 1.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2563037/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2563037&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(89)91713-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2563037">1989</a>, <a href="#58" class="mim-tip-reference" title="Owen, F., Poulter, M., Shah, T., Collinge, J., Lofthouse, R., Baker, H., Ridley, R., McVey, J., Crow, T. J. &lt;strong&gt;An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.&lt;/strong&gt; Molec. Brain Res. 7: 273-276, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2159587/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2159587&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0169-328x(90)90038-f&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2159587">1990</a>) identified a 144-bp insertion in the PRNP gene (<a href="/entry/176640#0001">176640.0001</a>). The insertion coded for 6 extra octapeptide repeats in the N-terminal region of the protein between codons 51 and 91. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2159587+2563037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 patients with Creutzfeldt-Jakob disease from the same family, <a href="#34" class="mim-tip-reference" title="Goldgaber, D., Goldfarb, L. G., Brown, P., Asher, D. M., Brown, W. T., Lin, S., Teener, J. W., Feinstone, S. M., Rubenstein, R., Kascsak, R. J., Boellaard, J. W., Gajdusek, D. C. &lt;strong&gt;Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker&#x27;s syndrome.&lt;/strong&gt; Exp. Neurol. 106: 204-206, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2572450/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2572450&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0014-4886(89)90095-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2572450">Goldgaber et al. (1989)</a> identified a glu200-to-lys (E200K; <a href="/entry/176640#0006">176640.0006</a>) substitution. Studying an unusual cluster of cases of CJD in rural Slovakia, <a href="#33" class="mim-tip-reference" title="Goldfarb, L. G., Mitrova, E., Brown, P., Toh, B. H., Gajdusek, D. C. &lt;strong&gt;Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. (Letter)&lt;/strong&gt; Lancet 336: 514-515, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1975028/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1975028&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0140-6736(90)92073-q&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1975028">Goldfarb et al. (1990)</a> found the E200K mutation in many cases of CJD in rural Slovakia. <a href="#32" class="mim-tip-reference" title="Goldfarb, L. G., Brown, P., Mitrova, E., Cervenakova, L., Goldin, L., Korczyn, A. D., Chapman, J., Galvez, S., Cartier, L., Rubenstein, R., Gajdusek, D. C. &lt;strong&gt;Creutzfeldt-Jacob disease associated with the PRNP codon 200-lys mutation: an analysis of 45 families.&lt;/strong&gt; Europ. J. Epidemiol. 7: 477-486, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1684755/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1684755&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00143125&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1684755">Goldfarb et al. (1991)</a> identified the E200K mutation in 45 of 55 CJD-affected families studied at the NIH laboratory. The families contained a total of 87 patients and originated from 7 different countries: Slovakia, Poland, Germany, Tunisia, Greece, Libya, and Chile. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2572450+1684755+1975028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#41" class="mim-tip-reference" title="Jackson, G. S., Beck, J. A., Navarrete, C., Brown, J., Sutton, P. M., Contreras, M., Collinge, J. &lt;strong&gt;HLA-DQ7 antigen and resistance to variant CJD.&lt;/strong&gt; Nature 414: 269-270, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11713518/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11713518&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/35104694&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11713518">Jackson et al. (2001)</a> demonstrated a significantly reduced frequency of the HLA class II type DQ7 in British Caucasians with variant Creutzfeldt-Jakob disease, but not in those with classic CJD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11713518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Beck, J. A., Campbell, T. A., Adamson, G., Poulter, M., Uphill, J. B., Molou, E., Collinge, J., Mead, S. &lt;strong&gt;Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease.&lt;/strong&gt; J. Med. Genet. 45: 813-817, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18805828/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18805828&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.061804&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18805828">Beck et al. (2008)</a> presented evidence that variation in the SPRN gene (<a href="/entry/610447">610447</a>) may be associated with Creutzfeldt-Jakob disease. Two of 107 patients with variant CJD were found to have a 1-bp insertion in the SPRN gene, which was not identified in 861 controls (p = 0.01). In addition, 2 linked SNPs in the SPRN gene were associated with risk of sporadic CJD (p = 0.009). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18805828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Sporadic Creutzfeldt-Jakob Disease (sCJD)</em></strong></p><p>
In the UK general population, <a href="#59" class="mim-tip-reference" title="Palmer, M. S., Dryden, A. J., Hughes, J. T., Collinge, J. &lt;strong&gt;Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease.&lt;/strong&gt; Nature 352: 340-342, 1991. Note: Erratum: Nature 352: 547 only, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1677164/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1677164&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/352340a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1677164">Palmer et al. (1991)</a> found the frequency of met129 homozygotes to be 37% and val/met129 heterozygotes to be 51%. In contrast, the frequency of met129 homozygotes and val/met129 heterozygotes among patients with sporadic CJD was 83% and 9%, respectively. The authors concluded that homozygosity for met129 confers susceptibility for the development of sporadic CJD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1677164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#60" class="mim-tip-reference" title="Parchi, P., Giese, A., Capellari, S., Brown, P., Schulz-Schaeffer, W., Windl, O., Zerr, I., Budka, H., Kopp, N., Piccardo, P., Poser, S., Rojiani, A., Streichemberger, N., Julien, J., Vital, C., Ghetti, B., Gambetti, P., Kretzschmar, H. &lt;strong&gt;Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.&lt;/strong&gt; Ann. Neurol. 46: 224-233, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10443888/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10443888&lt;/a&gt;]" pmid="10443888">Parchi et al. (1999)</a> delineated 6 subtypes of sCJD according to PrP(Sc) type, PRNP codon 129 genotype (<a href="/entry/176640#0005">176640.0005</a>), and disease phenotype. Seventy percent of patients showed the classic phenotype, PrP(Sc) type 1, and at least 1 met allele at codon 129. Among 300 cases of sCJD, 71.6% were homozygous for met129, 11.75% were met/val heterozygous, and 16.7% were val homozygous. Prp(Sc) type 1 was identified in 95% of met homozygotes, 3.7% of met/val heterozygotes, and 1.4% of val homozygotes, whereas type 2 was identified in 14% met/met, 31.4% met/val, and 54.6% val/val. The relative proportion of each of the 3 PrP(Sc) glycosylation forms showed significant heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10443888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using microarray analysis to examine postmortem frontal cortex from 15 unrelated patients with sCJD, <a href="#71" class="mim-tip-reference" title="Xiang, W., Windl, O., Westner, I. M., Neumann, M., Zerr, I., Lederer, R. M., Kretzschmar, H. A. &lt;strong&gt;Cerebral gene expression profiles in sporadic Creutzfeldt-Jakob disease.&lt;/strong&gt; Ann. Neurol. 58: 242-257, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16049922/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16049922&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.20551&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16049922">Xiang et al. (2005)</a> identified 79 genes that were upregulated at least 1.5-fold and 275 genes that were downregulated at least 2-fold compared to 5 control brains. In general, upregulated genes included those encoding immune and stress-response factors and elements involved in cell death and cell cycle; downregulated genes included those encoding synaptic proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16049922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Sporadic Creutzfeldt-Jakob Disease (sCJD)</em></strong></p><p>
Molecular subtypes of sCJD, as identified by <a href="#60" class="mim-tip-reference" title="Parchi, P., Giese, A., Capellari, S., Brown, P., Schulz-Schaeffer, W., Windl, O., Zerr, I., Budka, H., Kopp, N., Piccardo, P., Poser, S., Rojiani, A., Streichemberger, N., Julien, J., Vital, C., Ghetti, B., Gambetti, P., Kretzschmar, H. &lt;strong&gt;Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.&lt;/strong&gt; Ann. Neurol. 46: 224-233, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10443888/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10443888&lt;/a&gt;]" pmid="10443888">Parchi et al. (1999)</a>, differ in phenotypic disease expression. The most common types, MM1 and MV1 (70%) are characterized by periodic sharp-wave complexes on EEG, increased T2-, fluid attenuated inversion recovery (FLAIR), and diffusion-weighted images (DWI) signals in the basal ganglia, and 14-3-3 protein in the CSF. The second most common type, VV2 (25%), is characterized by ataxia and dementia as presenting features, median survival of 7.5 months, and absence of typical EEG findings. The rarest subtype is VV1 (1.4%) and is characterized by young age at onset, long disease duration, and slowly progressive dementia. The phenotype of VV1 is similar to variant CJD (<a href="#54" class="mim-tip-reference" title="Meissner, B., Westner, I. M., Kallenberg, K., Krasnianski, A., Bartl, M., Varges, D., Bosenberg, C., Kretzschmar, H. A., Knauth, M., Schulz-Schaeffer, W. J., Zerr, I. &lt;strong&gt;Sporadic Creutzfeldt-Jakob disease: clinical and diagnostic characteristics of the rare VV1 type.&lt;/strong&gt; Neurology 65: 1544-1550, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16221949/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16221949&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000184674.32924.c9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16221949">Meissner et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10443888+16221949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#54" class="mim-tip-reference" title="Meissner, B., Westner, I. M., Kallenberg, K., Krasnianski, A., Bartl, M., Varges, D., Bosenberg, C., Kretzschmar, H. A., Knauth, M., Schulz-Schaeffer, W. J., Zerr, I. &lt;strong&gt;Sporadic Creutzfeldt-Jakob disease: clinical and diagnostic characteristics of the rare VV1 type.&lt;/strong&gt; Neurology 65: 1544-1550, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16221949/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16221949&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000184674.32924.c9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16221949">Meissner et al. (2005)</a> reported 9 unrelated German patients, including 8 men and 1 woman, with the rare VV1 subtype of sCJD. None had mutations in the PRNP gene. Mean age at onset was 44 years (range 19 to 55) and median duration of the illness was 21 months (17 to 49 months). The main presenting symptoms included slowly developing dementia and personality changes, including aggression, childish behavior, fear, and paranoia. Two patients had headache in addition to dementia, and 1 had apraxia of the right hand as the first sign. Eight of 9 patients later developed tonus abnormalities, such as rigidity and spasticity, and 5 had either ataxia or myoclonus. Other features included focal neurologic signs, visual and sensory disturbances, hallucinations, seizures, and chorea-ballismus. EEGs showed focal slowing without periodic sharp-wave complexes. All 7 patients imaged showed increased signals in the temporal lobes, followed by the insula and hippocampus, cingulate gyrus, and other lobes. Eight of 9 patients had increased 14-3-3 protein in the CSF, although in 1 patient, the 14-3-3 protein was no longer detectable 14 months after onset. <a href="#54" class="mim-tip-reference" title="Meissner, B., Westner, I. M., Kallenberg, K., Krasnianski, A., Bartl, M., Varges, D., Bosenberg, C., Kretzschmar, H. A., Knauth, M., Schulz-Schaeffer, W. J., Zerr, I. &lt;strong&gt;Sporadic Creutzfeldt-Jakob disease: clinical and diagnostic characteristics of the rare VV1 type.&lt;/strong&gt; Neurology 65: 1544-1550, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16221949/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16221949&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000184674.32924.c9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16221949">Meissner et al. (2005)</a> emphasized the prolonged course of these patients compared to other CJD patients and noted that suspicion of this form of sCJD disease may occur during a later stage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16221949" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Creutzfeldt-Jakob disease occurs in unusually high frequency in Chile (<a href="#51" class="mim-tip-reference" title="Masters, C. L., Harris, J. O., Gajdusek, D. C., Gibbs, C. J., Jr., Bernoulli, C., Asher, D. M. &lt;strong&gt;Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering.&lt;/strong&gt; Ann. Neurol. 5: 177-188, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/371520/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;371520&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410050212&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="371520">Masters et al., 1979</a>). <a href="#44" class="mim-tip-reference" title="Kahana, E., Alter, M., Braham, J., Sofer, D. &lt;strong&gt;Creutzfeldt-Jakob disease: focus among Libyan Jews in Israel.&lt;/strong&gt; Science 183: 90-91, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4587265/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4587265&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.183.4120.90&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4587265">Kahana et al. (1974)</a> described an aggregation of cases among Libyan Jews, a finding that supports the viral or the genetic hypothesis or perhaps both. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4587265+371520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a country-wide survey of CJD in Israel, <a href="#75" class="mim-tip-reference" title="Zilber, N., Kahana, E., Abraham, M. &lt;strong&gt;The Libyan Creutzfeldt-Jakob disease focus in Israel: an epidemiologic evaluation.&lt;/strong&gt; Neurology 41: 1385-1389, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1891086/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1891086&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.41.9.1385&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1891086">Zilber et al. (1991)</a> diagnosed 114 cases, among them 49 Libyan-born, with onset of disease during the years 1963-1987. After age adjustment, the mean annual incidence rate per million population was 43 among Libyan-born and 0.9 in the rest of the population. Among Jews born in Egypt and Tunisia, countries neighboring Libya, the adjusted rates were higher than in the other Israelis (3.5 and 2.3 per million, respectively). Among Libyan Jews, there was no association between incidence rate of CJD and age at immigration, i.e., duration of exposure to a hypothetical infectious factor in Libya. The percentage of familial cases among Libyan Jews (41 to 47%) is one of the highest known. <a href="#45" class="mim-tip-reference" title="Kahana, E., Zilber, N., Abraham, M. &lt;strong&gt;Do Creutzfeldt-Jakob disease patients of Jewish Libyan origin have unique clinical features?&lt;/strong&gt; Neurology 41: 1390-1392, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1891087/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1891087&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.41.9.1390&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1891087">Kahana et al. (1991)</a> reported that the clinical presentation and evolution of the disease were very similar in patients born in Libya and others without Libyan ancestry but tended to be more classic in the Libyan patients, with higher frequency of myoclonic jerks and periodic EEG and a progressive course of shorter duration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1891087+1891086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#53" class="mim-tip-reference" title="Meiner, Z., Gabizon, R., Prusiner, S. B. &lt;strong&gt;Familial Creutzfeldt-Jakob disease: codon 200 prion disease in Libyan Jews.&lt;/strong&gt; Medicine 76: 227-237, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9279329/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9279329&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005792-199707000-00001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9279329">Meiner et al. (1997)</a> reviewed familial Creutzfeldt-Jakob disease with particular reference to the E200K mutation (<a href="/entry/176640#0006">176640.0006</a>), which is unusually frequent in Libyan Jews. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9279329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Gray tremor (gt) in the mouse is a transmissible spongiform encephalopathy that behaves as an autosomal recessive mutation. It has a complex phenotype including pigmentation defects, tremor, seizures, hypo- and dysmyelination in central and peripheral nervous systems, spongiform encephalopathy, and early death. The heterozygote is phenotypically normal but develops a mild spongiform encephalopathy from 2 months of age onward. <a href="#66" class="mim-tip-reference" title="Sidman, R. L., Kinney, H. C., Sweet, H. O. &lt;strong&gt;Transmissible spongiform encephalopathy in the gray tremor mutant mouse.&lt;/strong&gt; Proc. Nat. Acad. Sci. 82: 253-257, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3855546/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3855546&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.82.1.253&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3855546">Sidman et al. (1985)</a> produced the later-expressed vacuolating disorder in genetically normal mice in transmission experiments. All 7 mice of 3 strains who were allowed to survive for the unusually long interval of 682 to 721 days after intracerebral inoculation of gt/gt brain homogenate in the neonatal period, developed spongiform changes distributed as in the mutant phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3855546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In Italy, <a href="#13" class="mim-tip-reference" title="Casalone, C., Zanusso, G., Acutis, P., Ferrari, S., Capucci, L., Tagliavini, F., Monaco, S., Caramelli, M. &lt;strong&gt;Identification of a second bovine amyloidotic spongiform encephalopathy: molecular similarities with sporadic Creutzfeldt-Jakob disease.&lt;/strong&gt; Proc. Nat. Acad. Sci. 101: 3065-3070, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14970340/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14970340&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=14970340[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.0305777101&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14970340">Casalone et al. (2004)</a> identified a novel form of BSE, which they called bovine amyloidotic spongiform encephalopathy (BASE). In 2 affected cattle, older than other affected bovines, the prion protein glycotype was clearly different from the BSE-associated prion protein molecule, and widespread prion-amyloid plaques were seen in supratentorial brain regions. Unlike typical BSE, the brainstem was less involved and no prion deposition was detected in the dorsal nucleus of the vagus nerve. Strikingly, the molecular signature of this previously undescribed bovine prion protein was similar to that encountered in a distinct subtype of sporadic CJD in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14970340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Asante, E. A., Linehan, J. M., Gowland, I., Joiner, S., Fox, K., Cooper, S., Osiguwa, O., Gorry, M., Welch, J., Houghton, R., Desbruslais, M., Brandner, S., Wadsworth, J. D. F., Collinge, J. &lt;strong&gt;Dissociation of pathological and molecular phenotype of variant Creutzfeldt-Jakob disease in transgenic human prion protein 129 heterozygous mice.&lt;/strong&gt; Proc. Nat. Acad. Sci. 103: 10759-10764, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16809423/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16809423&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16809423[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.0604292103&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16809423">Asante et al. (2006)</a> found that transgenic mice expressing human met/val129 and inoculated with type 4 PrP(Sc), which is associated with vCJD, did not develop characteristic vCJD neuropathology. Depending on the source of the inoculum, which was derived from human and bovine prion isolates, the mice developed 4 different disease phenotypes. Mice challenged with vCJD prions had higher rates of infection than BSE-challenged mice. The findings suggested that PRNP 129 heterozygotes may be more susceptible to infection with human-passaged vCJD prions than primary infection with bovine-derived prions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16809423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Dossena, S., Imeri, L., Mangieri, M., Garofoli, A., Ferrari, L., Senatore, A., Restelli, E., Balducci, C., Fiordaliso, F., Salio, M., Bianchi, S., Fioriti, L., Morbin, M., Pincherle, A., Marcon, G., Villani, F., Carli, M., Tagliavini, F., Forloni, G., Chiesa, R. &lt;strong&gt;Mutant prion protein expression causes motor and memory deficits and abnormal sleep patterns in a transgenic mouse model.&lt;/strong&gt; Neuron 60: 598-609, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19038218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19038218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.neuron.2008.09.008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19038218">Dossena et al. (2008)</a> generated a transgenic mouse model expressing the mouse homolog of the D178N/M129V mutation (<a href="/entry/176640#0007">176640.0007</a>). These mice developed clinical and pathologic features reminiscent of CJD, including motor dysfunction, memory impairment, cerebral prion protein deposition, and gliosis. Other features included EEG abnormalities and severe alterations of sleep-wake patterns similar to those observed in human patients. Neurons from the mutant mice showed swelling of the endoplasmic reticulum (ER) with intracellular retention of mutant prion protein, suggesting that ER dysfunction could contribute to the pathology of CJD. The mutant protein was protease-resistant and formed aggregations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19038218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Doh-ura1990" class="mim-tip-reference" title="Doh-ura, K., Tateishi, J., Kitamoto, T., Sasaki, H., Sakaki, Y. &lt;strong&gt;Creutzfeldt-Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann-Straussler syndrome.&lt;/strong&gt; Ann. Neurol. 27: 121-126, 1990.">Doh-ura et al. (1990)</a>; <a href="#Galvez1983" class="mim-tip-reference" title="Galvez, S., Cartier, L., Monari, M., Araya, G. &lt;strong&gt;Familial Creutzfeldt-Jakob disease in Chile.&lt;/strong&gt; J. Neurol. Sci. 59: 139-147, 1983.">Galvez et al. (1983)</a>; <a href="#Goldfarb1990" class="mim-tip-reference" title="Goldfarb, L. G., Mitrova, E., Brown, P., Toh, B. H., Gajdusek, D. C. &lt;strong&gt;Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. (Letter)&lt;/strong&gt; Lancet 336: 514-515, 1990.">Goldfarb et al. (1990)</a>; <a href="#Hadlow1980" class="mim-tip-reference" title="Hadlow, W. J., Prusiner, S. B., Kennedy, R. C., Race, R. E. &lt;strong&gt;Brain tissue from persons dying of Creutzfeldt-Jakob disease causes scrapie-like encephalopathy in goats.&lt;/strong&gt; Ann. Neurol. 8: 628-631, 1980.">Hadlow et al. (1980)</a>; <a href="#Kovanen1980" class="mim-tip-reference" title="Kovanen, J., Tiilikainen, A., Haltia, M. &lt;strong&gt;Histocompatibility antigens in familial Creutzfeldt-Jakob disease.&lt;/strong&gt; J. Neurol. Sci. 45: 317-321, 1980.">Kovanen et al. (1980)</a>; <a href="#Roos1973" class="mim-tip-reference" title="Roos, R. P., Gajdusek, D. C., Gibbs, C. J., Jr. &lt;strong&gt;The clinical characteristics of transmissible Creutzfeldt-Jakob disease.&lt;/strong&gt; Brain 96: 1-20, 1973.">Roos et al. (1973)</a>; <a href="#Vallat1983" class="mim-tip-reference" title="Vallat, J.-M., Dumas, M., Corvisier, N., Leboutet, M.-J., Loubet, A., Dumas, P., Cathala, F. &lt;strong&gt;Familial Creutzfeldt-Jakob disease with extensive degeneration of white matter: ultrastructure of peripheral nerve.&lt;/strong&gt; J. Neurol. Sci. 61: 261-275, 1983.">Vallat et al. (1983)</a>
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<a id="Aguzzi1996" class="mim-anchor"></a>
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Aguzzi, A., Weissmann, C.
<strong>A suspicious signature.</strong>
Nature 383: 666-667, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8878470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8878470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8878470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/383666a0" target="_blank">Full Text</a>]
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<a id="Asante2006" class="mim-anchor"></a>
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Asante, E. A., Linehan, J. M., Gowland, I., Joiner, S., Fox, K., Cooper, S., Osiguwa, O., Gorry, M., Welch, J., Houghton, R., Desbruslais, M., Brandner, S., Wadsworth, J. D. F., Collinge, J.
<strong>Dissociation of pathological and molecular phenotype of variant Creutzfeldt-Jakob disease in transgenic human prion protein 129 heterozygous mice.</strong>
Proc. Nat. Acad. Sci. 103: 10759-10764, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16809423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16809423</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16809423[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16809423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.0604292103" target="_blank">Full Text</a>]
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<a id="Beck2008" class="mim-anchor"></a>
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Beck, J. A., Campbell, T. A., Adamson, G., Poulter, M., Uphill, J. B., Molou, E., Collinge, J., Mead, S.
<strong>Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease.</strong>
J. Med. Genet. 45: 813-817, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18805828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18805828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18805828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2008.061804" target="_blank">Full Text</a>]
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<a id="Bertoni1983" class="mim-anchor"></a>
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Bertoni, J. M., Label, L. S., Sackelleres, J. C., Hicks, S. P.
<strong>Supranuclear gaze palsy in familial Creutzfeldt-Jakob disease.</strong>
Arch. Neurol. 40: 618-622, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6351815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6351815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6351815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archneur.1983.04050090054008" target="_blank">Full Text</a>]
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<a id="Bockman1985" class="mim-anchor"></a>
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Bockman, J. M., Kingsbury, D. T., McKinley, M. P., Bendheim, P. E., Prusiner, S. B.
<strong>Creutzfeldt-Jakob disease prion proteins in human brains.</strong>
New Eng. J. Med. 312: 73-78, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3917302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3917302</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3917302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM198501103120202" target="_blank">Full Text</a>]
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<a id="Brandel2009" class="mim-anchor"></a>
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Brandel, J.-P., Heath, C. A., Head, M. W., Levavasseur, E., Knight, R., Laplanche, J.-L., Langeveld, J. P. M., Ironside, J. W., Hauw, J.-J., Mackenzie, J., Alperovitch, A., Will, R. G., Haik, S.
<strong>Variant Creutzfeldt-Jakob disease in France and the United Kingdom: evidence for the same agent strain.</strong>
Ann. Neurol. 65: 249-256, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19334063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19334063</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19334063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.21583" target="_blank">Full Text</a>]
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<a id="Brown1986" class="mim-anchor"></a>
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Brown, P., Cathala, F., Castaigne, P., Gajdusek, D. C.
<strong>Creutzfeldt-Jakob disease: clinical analysis of a consecutive series of 230 neuropathologically verified cases.</strong>
Ann. Neurol. 20: 597-602, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3539001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3539001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3539001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.410200507" target="_blank">Full Text</a>]
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<div class="">
<p class="mim-text-font">
Brown, P., Cervenakova, L., Goldfarb, L. G., McCombie, W. R., Rubenstein, R., Will, R. G., Pocchiari, M., Martinez-Lage, J. F., Scalici, C., Masullo, C., Graupera, G., Ligan, J., Gajdusek, D. C.
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[<a href="https://doi.org/10.1212/wnl.44.2.291" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0140-6736(92)92431-e" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.410160305" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jnnp.48.3.234" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.0305777101" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0022-510x(80)90087-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(96)90638-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/370295a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(98)08138-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bjo.2005.074856" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(05)62163-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.410270205" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.neuron.2008.09.008" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1964.00460140067009" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0022-510x(83)90087-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.161.3839.388" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0014-4886(90)90130-k" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00143125" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJMp020187" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 10/20/2014
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Ada Hamosh - updated : 6/9/2011<br>Cassandra L. Kniffin - updated : 4/2/2010<br>Cassandra L. Kniffin - updated : 12/7/2009<br>Marla J. F. O'Neill - updated : 9/9/2009<br>Cassandra L. Kniffin - updated : 6/23/2009<br>Cassandra L. Kniffin - updated : 2/11/2009<br>Cassandra L. Kniffin - updated : 4/3/2008<br>Cassandra L. Kniffin - updated : 10/2/2007<br>Cassandra L. Kniffin - updated : 2/21/2007<br>Cassandra L. Kniffin - updated : 8/23/2006<br>Cassandra L. Kniffin - updated : 7/14/2006<br>Cassandra L. Kniffin - updated : 11/30/2005<br>Cassandra L. Kniffin - updated : 11/10/2005<br>Cassandra L. Kniffin - reorganized : 5/4/2005<br>Cassandra L. Kniffin - updated : 4/27/2005<br>Victor A. McKusick - updated : 4/21/2004<br>Cassandra L. Kniffin - updated : 9/3/2003<br>Jane Kelly - updated : 3/17/2003<br>Ada Hamosh - updated : 4/4/2001<br>Wilson H. Y. Lo - updated : 2/26/2000<br>Victor A. McKusick - updated : 1/5/1999<br>Victor A. McKusick - updated : 10/16/1997<br>Moyra Smith - updated : 10/24/1996
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Creation Date:
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Victor A. McKusick : 6/4/1986
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joanna : 05/17/2023
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carol : 11/02/2022<br>carol : 11/01/2022<br>carol : 05/02/2022<br>alopez : 10/24/2014<br>ckniffin : 10/20/2014<br>carol : 4/1/2013<br>carol : 12/21/2011<br>alopez : 6/9/2011<br>wwang : 4/8/2010<br>ckniffin : 4/2/2010<br>wwang : 12/8/2009<br>ckniffin : 12/7/2009<br>carol : 9/10/2009<br>terry : 9/9/2009<br>wwang : 7/20/2009<br>ckniffin : 6/23/2009<br>terry : 4/8/2009<br>wwang : 4/6/2009<br>ckniffin : 2/11/2009<br>wwang : 4/14/2008<br>ckniffin : 4/3/2008<br>carol : 10/16/2007<br>wwang : 10/9/2007<br>ckniffin : 10/2/2007<br>wwang : 2/21/2007<br>ckniffin : 2/21/2007<br>wwang : 8/29/2006<br>ckniffin : 8/23/2006<br>carol : 7/19/2006<br>carol : 7/19/2006<br>ckniffin : 7/14/2006<br>wwang : 12/5/2005<br>ckniffin : 11/30/2005<br>carol : 11/19/2005<br>ckniffin : 11/10/2005<br>carol : 5/4/2005<br>ckniffin : 4/27/2005<br>terry : 2/22/2005<br>tkritzer : 5/4/2004<br>tkritzer : 4/29/2004<br>terry : 4/21/2004<br>tkritzer : 9/9/2003<br>ckniffin : 9/3/2003<br>tkritzer : 3/17/2003<br>cwells : 3/17/2003<br>alopez : 4/5/2001<br>terry : 4/4/2001<br>mcapotos : 8/8/2000<br>carol : 8/4/2000<br>carol : 2/26/2000<br>carol : 6/4/1999<br>terry : 5/3/1999<br>carol : 1/6/1999<br>terry : 1/5/1999<br>mark : 10/16/1997<br>mark : 8/6/1997<br>mark : 8/5/1997<br>mark : 6/10/1997<br>mark : 10/25/1996<br>mark : 10/24/1996<br>mark : 6/11/1995<br>terry : 2/6/1995<br>carol : 1/23/1995<br>pfoster : 9/7/1994<br>mimadm : 6/25/1994<br>warfield : 4/8/1994
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<strong>#</strong> 123400
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CREUTZFELDT-JAKOB DISEASE; CJD
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<em>Alternative titles; symbols</em>
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CREUTZFELDT-JAKOB DISEASE, FAMILIAL
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Other entities represented in this entry:
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CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED; sCJD, INCLUDED
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CREUTZFELDT-JAKOB DISEASE, VARIANT, INCLUDED; vCJD, INCLUDED<br />
CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT, INCLUDED
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<strong>SNOMEDCT:</strong> 304603007, 713060000, 715807002, 792004; &nbsp;
<strong>ICD10CM:</strong> A81.0, A81.00, A81.01, A81.09; &nbsp;
<strong>ICD9CM:</strong> 046.1, 046.11; &nbsp;
<strong>ORPHA:</strong> 204, 282166, 454700; &nbsp;
<strong>DO:</strong> 11949; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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6p21.32
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{Creutzfeldt-Jakob disease, variant, resistance to}
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123400
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Autosomal dominant
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3
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HLA-DQB1
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604305
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20p13
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Creutzfeldt-Jakob disease
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123400
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Autosomal dominant
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3
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PRNP
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176640
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because familial Creutzfeldt-Jakob disease (CJD) can be caused by heterozygous mutation in the prion protein gene (PRNP; 176640) on chromosome 20p13.</p><p>Gerstmann-Straussler disease (GSD; 137440) and familial fatal insomnia (FFI; 600072) are 2 other allelic inherited prion diseases caused by mutation in the PRNP gene.</p>
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<strong>Description</strong>
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<p>The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and associated with coding mutations in the PRNP gene. Acquired prion diseases include iatrogenic CJD, kuru (245300), variant CJD (vCJD) in humans, scrapie in sheep, and bovine spongiform encephalopathy (BSE) in cattle. Variant CJD is believed to be acquired from cattle infected with BSE. However, the majority of human cases of prion disease occur as sporadic CJD (sCJD) (Collinge et al., 1996; Parchi et al., 2000; Hill et al., 2003). </p><p>Johnson and Gibbs (1998) provided a comprehensive review of Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. </p><p>Tyler (2003) described the characteristics of sporadic CJD as encapsulated by C. Miller Fisher in 1960. </p>
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<strong>Clinical Features</strong>
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<p>Jacob et al. (1950) gave a follow-up on the first reported family, in which members of 3 generations may have been affected. Male-to-male transmission was documented. Davidson and Rabiner (1940) described 3 affected sibs. Friede and Dejong (1964) and later May et al. (1968) described an affected father and 3 daughters. Onset was between 38 and 45 years with a short duration of 10 months to 2 years. The disorder began with forgetfulness and nervousness, and progressed to jerky, trembling movements of the hands, loss of facial expression, and unsteady gait. Pathologic findings included severe status spongiosus, diffuse nerve cell degeneration, and some glial proliferation. </p><p>Rosenthal et al. (1976) reported a family in which 16 members had a neurologic disease ranging from subacute and chronic dementia to various motor system abnormalities without dementia. Inheritance was autosomal dominant. Although the proband had typical CJD with neuropathologic demonstration of spongiform encephalopathy, a first cousin had chronic dementia without spongiform changes. Both patients had PAS-positive, eosinophilic plaques throughout the brain. The authors suggested that susceptibility for neurologic disease in this family was inherited as an autosomal dominant trait. </p><p>Buge et al. (1978) reported a family in which 8 members spanning 3 generations had CJD. The family originated from southeast England and settled in France in 1870. Cathala et al. (1980) identified a second affected branch of the family reported by Buge et al. (1978), bringing the total number of people affected to 14. The pattern of inheritance was clearly autosomal dominant. </p><p>Bertoni et al. (1983) reported 7 individuals with CJD in 3 generations of a large kindred. They pointed out that 3 of 4 patients studied in detail were first observed with supranuclear gaze paralysis, gait ataxia, and rapidly progressive dementia. Most of the affected persons were farmers. In a Chilean family, Cartier et al. (1985) described a brother and sister and possibly a third sib who had an unusual form of Creutzfeldt-Jakob disease with prominent ataxia. </p><p>Brown et al. (1984) found that 5 to 10% of CJD patients had a relatively long course lasting more than 2 years. Of this group, approximately 30% had familial disease. In addition, they had a younger age at onset (average, 48 years), and lower frequency of myoclonus (79%) and periodic EEG activity (45%) than unselected cases. The longest course was 13 years in a case proved by transmissibility. Of 225 transmitted cases, 15 (7%) had a prolonged course. The incubation period and duration of illness after injection into primates bore no relation to the duration of illness in patients. </p><p>In a consecutive series of 230 patients with neuropathologically verified CJD, Brown et al. (1986) found that men and women were affected about equally with a mean age of onset of 61.5 years. Familial cases accounted for 4 to 8% of the series. Most of the early neurologic symptoms were cerebellar or visual. Extrapyramidal muscular rigidity, myoclonus, and characteristic periodic EEG complexes were observed comparatively late. The median duration of illness was 4 months and the mean was 7.6 months; 90% of patients died within a year of onset. </p><p><strong><em>Variant Creutzfeldt-Jakob Disease (vCJD)</em></strong></p><p>
Will et al. (1996) reported a 'new variant' of CJD in the UK. Ten of 270 cases of CJD ascertained in the UK since 1990 had clinical and neuropathologic findings that distinguished them from the other cases. Disease onset in these cases occurred between 1994 and 1995. Age at onset ranged from 16 to 39 years, with a mean of 29 years, and duration ranged from 7.5 to 22.5 months. Nine of the patients had behavioral changes as an early feature and were referred to a psychiatrist. Three patients had dysesthesias as the presenting symptom, 9 developed ataxia early in the disease, 7 developed myoclonus late in the disease course, and 3 had choreoathetosis. All patients eventually developed dementia. None of the cases had EEG features usually associated with CJD. Neuropathologic examination showed spongiform changes, neuronal loss, and gliosis most notably in the basal ganglia and thalamus, although all areas of the cerebral cortex were also affected. All cases had diffuse localization of PrP-positive plaques resembling those seen in kuru. Will et al. (1996) suggested a link between the new variant CJD and bovine spongiform encephalopathy. All 8 cases genotyped were homozygous for the met129 polymorphism in the PRNP gene (176640.0005) and had no other PRNP mutations. </p><p>Deslys et al. (1997) found that a French patient with new variant CJD first reported by Chazot et al. (1996) had PrP immunostaining and electrophoretic patterns similar to those seen in vCJD patients from the UK, suggesting that vCJD is a unique, and homogeneous, disease variant. </p><p>In a review of clinical, genetic, neuropathologic, and biochemical data of 23 French patients and 162 British patients with vCJD, Brandel et al. (2009) concluded that almost all data were similar, indicating a common infectious strain. The only difference was age at onset, which was delayed by about 8 years in French patients; disease duration was the same between the 2 populations. All of the 23 French patients and all tested British patients were homozygous for met129. Western blot analysis in the 2 groups of patients showed a type 2B PRNP isoform. The findings suggested that the French vCJD was related to imported contaminated beef products from the UK. Brandel et al. (2009) postulated that the later age of onset and death among French patients resulted from a difference in exposure or dietary habits. </p><p><strong><em>Heidenhain Variant</em></strong></p><p>
Heidenhain (1928) reported a variant of sporadic CJD in which patients had prominent early visual symptoms. The term 'Heidenhain variant' has since been used to refer to cases in which visual symptoms occur along with otherwise characteristic features of CJD (Cooper et al., 2005). In a retrospective review of 594 pathologically proven cases of sCJD, Cooper et al. (2005) identified 22 cases with isolated visual symptoms at onset. The mean age at disease onset was 67 years, and the mean illness duration was 4 months. Seventeen (77%) were first referred to an ophthalmologist for symptoms including decreased visual acuity, blurred vision, peripheral visual field defect, visual distortions, and impaired color vision. Two had cataract surgery. Most patients showed myoclonus, pyramidal signs, and a delay in onset of dementia for several weeks. All 16 tested cases were homozygous for met129. Cooper et al. (2005) noted the diagnostic difficulties associated with this group of patients and emphasized the risk of transmission due to ocular intervention before correct diagnosis. </p><p>Keyrouz et al. (2006) reported a 51-year-old woman who presented with rapidly progressive memory loss, language impairment, and difficulty performing routine activities. She had previously been in a psychiatric ward for visual hallucinations and abnormal behavior. Other features included cortical blindness, spasticity with hyperreflexia, and myoclonic jerks. CSF 14-3-3 protein was increased. She died 4 months later. Keyrouz et al. (2006) concluded that she had the Heidenhain variant of CJD, which was characterized by pronounced hyperintensities in the occipital lobes on diffusion-weighted brain MRI. </p>
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<strong>Other Features</strong>
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<p>Stoeck et al. (2005) observed significantly increased cerebrospinal fluid levels of the antiinflammatory cytokine IL10 (124092) in 20 patients with sporadic CJD compared to patients with other forms of dementia, motoneuron disease, normal pressure hydrocephalus, and normal controls. Patients with CJD also had increased levels of IL4 (147780) compared to patients with motoneuron disease, normal pressure hydrocephalus, and controls, but not compared to other forms of dementia. The findings suggested that these cytokines may modulate the neurodegenerative process in CJD. </p>
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<strong>Pathogenesis</strong>
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<p>Bockman et al. (1985) found that purified fractions from the brains of 2 patients with CJD contained protease-resistant proteins ranging in molecular mass from 10 to 50 kD. These proteins reacted with antibodies raised against the scrapie prion protein PrP 27-30. Rod-shaped particles found in the brain tissue of the patients were similar to those from rodents with either scrapie or experimental CJD. After staining with Congo red dye, the protein polymers from patients with CJD showed green birefringence under polarized light. Bockman et al. (1985) suggested that the amyloid plaques of CJD were paracrystalline arrays of prions similar to those found in scrapie-infected hamsters (DeArmond et al., 1985). </p><p>Based on their studies in PrP-null mice, Collinge et al. (1994) concluded that prion protein is necessary for normal synaptic function. They postulated that inherited prion disease may result from a dominant-negative effect with generation of PrP(Sc), the posttranslationally modified form of cellular PrPc, ultimately leading to progressive loss of functional PrPc. </p><p>Miele et al. (2001) demonstrated that a dramatic decrease in expression of a transcript specific to the erythroid lineage cells (EDRF; 605821) is a common feature of transmissible spongiform encephalopathies (TSEs). Miele et al. (2001) suggested a previously unrecognized role for involvement of the erythroid lineage in the etiology of TSE pathogenesis. </p><p>Head et al. (2003) found that presumptive centrifugal spread of PrP(Sc) from the brain through the optic nerve occurred in both sporadic and variant CJD. Given that routine decontamination might not remove PrP(Sc) from surgical instruments, the authors proposed that a careful risk assessment be made of possible iatrogenic spread of sporadic and variant CJD after surgery on the retina or optic nerve. </p><p>Zanusso et al. (2003) studied 9 patients with neuropathologically confirmed sporadic CJD and found that PrP(Sc) was present in olfactory cilia and central olfactory pathway, but not in the respiratory mucosa. They concluded that olfactory biopsy may prove diagnostically useful, and that the olfactory pathway may represent a route of infection and a means of spreading prions. </p><p>Zanusso et al. (2007) reported an atypical case of sCJD associated with a novel prion protein conformation. The patient was a 69-year-old woman with rapid progression of behavioral disturbances and dementia, resulting in akinetic mutism and death approximately 13 months after disease onset. Postmortem examination showed spongiform degeneration, intracellular prion protein deposition, and axonal swellings filled with Prp-positive fibrils. Biochemical analysis detected a novel prion protein tertiary structure, which was predominantly unglycosylated. No mutation in the PRNP gene was found, and all bank voles inoculated with brain suspension from the patient developed disease. </p><p>Prion incubation periods in experimental animals vary inversely with expression level of cellular prion protein. Sandberg et al. (2011) demonstrated that prion propagation in brain proceeds via 2 distinct phases: a clinically silent exponential phase not rate-limited by prion protein concentration that rapidly reaches a maximal prion titer, followed by a distinct switch to a plateau phase. The latter determines time to clinical onset in a manner inversely proportional to prion protein concentration. These findings demonstrated an uncoupling of infectivity and toxicity. Sandberg et al. (2011) suggested that prions themselves are not neurotoxic but catalyze the formation of such species from PrPC. Production of neurotoxic species is triggered when prion propagation saturates, leading to a switch from autocatalytic production of infectivity (phase 1) to a toxic (phase 2) pathway. </p><p><strong><em>Variant Creutzfeldt-Jakob Disease (vCJD)</em></strong></p><p>
Collinge et al. (1996) reported that 'new variant' CJD (vCJD) is associated with the unique and highly consistent appearance of protease-resistant PrP on Western blots involving a characteristic pattern of glycosylation. They also reported that transmission of CJD to inbred mice produced a PrP(Sc) pattern characteristic of the inoculated CJD. Transmission of bovine spongiform encephalopathy (BSE) prion produced a glycoform ratio pattern of PrP closely similar to that of new variant CJD. They found that the PrP(Sc) from experimental BSE in macaques and naturally acquired BSE in domestic cats showed a glycoform pattern indistinguishable from that of experimental murine BSE and new variant CJD. The report of Collinge et al. (1996) was reviewed by Aguzzi and Weissmann (1996), who concluded that Collinge et al. (1996) had provided further evidence that the BSE agent has been transmitted to man. </p><p>In 3 patients with vCJD, Haik et al. (2003) found pathologic accumulation of PrP(Sc) in neurons of the sympathetic ganglia of the autonomic nervous system, including the celiac, superior mesenteric, and stellate ganglia. No PrP(Sc) was detected in the corresponding ganglia from sporadic or iatrogenic cases of CJD. Consistent with these observations, the Western blot pattern of PrP(Sc) in vCJD showed migration of a 19-kD protein, which is specific to vCJD. Haik et al. (2003) concluded that the sympathetic nervous system is involved in the pathogenesis of vCJD and suggested a role for gut-associated sympathetic neurons in prion propagation after oral contamination. </p><p>Tyler (2003) reviewed the clinical findings in cases of variant CJD, which differed dramatically from those in sporadic cases. The recognition that patients with new variant CJD have CJD prions in extraneural sites, including lymphoreticular tissues, led to the use of tonsil biopsy as an important diagnostic test. Similarly detectable lymphoreticular reservoirs were not present in sporadic cases of CJD. </p>
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<strong>Inheritance</strong>
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<p>Masters et al. (1979) found that about 15% of CJD cases are familial. From a study of 73 families, Masters et al. (1981) concluded that 15% of cases of CJD have a family history consistent with autosomal dominant transmission. Onset of disease was significantly earlier in familial cases. Temporal and spatial separations between affected relatives suggested that incubation periods ranged at least from 1 to 4 decades. Affected sibs tended to die at the same age and not at the same time. In 4 families, CJD occurred in members related by marriage. </p><p>Minikel et al. (2014) found no evidence for genetic anticipation among 217 individuals with CJD due to the PRNP E200K mutation (176640.0006). The authors concluded that any reports of anticipation in genetic prion disease result from ascertainment bias. </p><p><strong><em>Transmission</em></strong></p><p>
Gibbs et al. (1968) reported a transmissible agent that reproduced CJD in a chimpanzee injected with brain material from a 59-year-old English male with CJD. Ferber et al. (1974) succeeded in transmitting the familial disease to the chimpanzee where the findings were the same as those from transmission of the sporadic disease. One of the families studied by Gajdusek (1973) had 14 affected members. The disease from 1 of these patients was transmitted to the chimpanzee. Zlotnik et al. (1974) transmitted the disease to the squirrel monkey. </p><p>Haltia et al. (1979) reported on 9 cases in 3 generations of a Finnish family. They raised the possibility of genomic integration of a virus, although in light of subsequent discoveries of transmission via abnormal prion protein, this now seems unlikely (Prusiner and Hsiao, 1994). Transmission through males and occurrence in only one of a pair of twins argued against transplacental passage or transmission via mother's milk. </p><p>Person-to-person transmission through a corneal transplant was suggested by the experience reported by Duffy et al. (1974). The transmission through cadaver-derived human growth hormone and through transplants, homografts, and surgical instruments was referred to as 'friendly fire' in medicine by Brown et al. (1992). Laurenson et al. (1999) reported a study supporting the hypothesis that surgical procedures may serve as unrecognized contamination events (Collins et al., 1999) and account for a proportion of cases of CJD. Because prions exhibit an unusual resistance to conventional chemical and thermal decontamination methods, surgical instruments must be promptly and effectively cleaned before thermal or chemical disinfections or sterilization. The authors summarized the causes of cleaning failures and proposed effective preventive measures. </p><p>Brown et al. (1994) tested 15 cases of iatrogenic CJD that represented central infection (from dura mater or corneal homografts and stereotactic EEG electrodes), 11 cases peripherally infected (from native human growth hormone or gonadotropin), and 110 control individuals for the presence of mutations in the chromosome 20 amyloid gene (as that group terms the prion gene). No patient or control had any of the known pathogenic point or insertional mutations found in the familial disease, but allelic homozygosity at the PRNP met129val polymorphism (176640.0005) was present in all but 2 (92%) of the 26 patients, compared with 54 (50%) of the 110 controls (p less than 0.001). Pooled data from all identified and tested cases of iatrogenic disease yielded a worldwide total of 56 patients, of whom all but 4 were homozygous at codon 129 (p less than 0.001). </p>
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<strong>Diagnosis</strong>
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<span class="mim-text-font">
<p>Zerr et al. (2009) assessed the diagnostic accuracy of brain MRI by evaluating 436 patients with sporadic Creutzfeldt-Jakob disease and 141 controls from 12 countries. The optimum diagnostic accuracy in the differential diagnosis of rapidly progressive dementia due to sCJD was obtained when either at least 2 cortical regions (temporal, parietal, or occipital) or both caudate nucleus and putamen displayed a high signal in fluid attenuated inversion recovery (FLAIR) or diffusion-weight imaging (DWI) MRI. These MRI findings were positive in 83% of cases. Zerr et al. (2009) proposed an amendment to the clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease to include specific brain MRI findings in addition to characteristic periodic sharp wave complexes on EEG and 14-3-3 protein detection in the CSF. In all definite cases, the amended criteria would be positive in 98% of cases. </p><p>As part of a large prospective study, Lee et al. (2009) analyzed early diffusion MRI scans of 14 patients with CJD due to the E200K mutation (176640.0006), 20 healthy mutation carriers, and 20 controls, and they found that both patients and mutation carriers had significantly reduced diffusion in the thalamostriatal network, comprising the putamen and mediodorsal, ventrolateral, and pulvinar thalamic nuclei. With disease onset, these diffusion reductions intensified but did not spread to other brain regions, except for also affecting the caudate. These findings indicated that cerebral diffusion reductions can be detected early in the course of CJD, even years before symptomatic onset in mutation carriers. In addition, the results suggested that the thalamostriatal network is involved in the pathogenesis of the disease. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In affected members of a family with inherited Creutzfeldt-Jakob disease, Owen et al. (1989, 1990) identified a 144-bp insertion in the PRNP gene (176640.0001). The insertion coded for 6 extra octapeptide repeats in the N-terminal region of the protein between codons 51 and 91. </p><p>In 2 patients with Creutzfeldt-Jakob disease from the same family, Goldgaber et al. (1989) identified a glu200-to-lys (E200K; 176640.0006) substitution. Studying an unusual cluster of cases of CJD in rural Slovakia, Goldfarb et al. (1990) found the E200K mutation in many cases of CJD in rural Slovakia. Goldfarb et al. (1991) identified the E200K mutation in 45 of 55 CJD-affected families studied at the NIH laboratory. The families contained a total of 87 patients and originated from 7 different countries: Slovakia, Poland, Germany, Tunisia, Greece, Libya, and Chile. </p><p>Jackson et al. (2001) demonstrated a significantly reduced frequency of the HLA class II type DQ7 in British Caucasians with variant Creutzfeldt-Jakob disease, but not in those with classic CJD. </p><p>Beck et al. (2008) presented evidence that variation in the SPRN gene (610447) may be associated with Creutzfeldt-Jakob disease. Two of 107 patients with variant CJD were found to have a 1-bp insertion in the SPRN gene, which was not identified in 861 controls (p = 0.01). In addition, 2 linked SNPs in the SPRN gene were associated with risk of sporadic CJD (p = 0.009). </p><p><strong><em>Sporadic Creutzfeldt-Jakob Disease (sCJD)</em></strong></p><p>
In the UK general population, Palmer et al. (1991) found the frequency of met129 homozygotes to be 37% and val/met129 heterozygotes to be 51%. In contrast, the frequency of met129 homozygotes and val/met129 heterozygotes among patients with sporadic CJD was 83% and 9%, respectively. The authors concluded that homozygosity for met129 confers susceptibility for the development of sporadic CJD. </p><p>Parchi et al. (1999) delineated 6 subtypes of sCJD according to PrP(Sc) type, PRNP codon 129 genotype (176640.0005), and disease phenotype. Seventy percent of patients showed the classic phenotype, PrP(Sc) type 1, and at least 1 met allele at codon 129. Among 300 cases of sCJD, 71.6% were homozygous for met129, 11.75% were met/val heterozygous, and 16.7% were val homozygous. Prp(Sc) type 1 was identified in 95% of met homozygotes, 3.7% of met/val heterozygotes, and 1.4% of val homozygotes, whereas type 2 was identified in 14% met/met, 31.4% met/val, and 54.6% val/val. The relative proportion of each of the 3 PrP(Sc) glycosylation forms showed significant heterogeneity. </p><p>Using microarray analysis to examine postmortem frontal cortex from 15 unrelated patients with sCJD, Xiang et al. (2005) identified 79 genes that were upregulated at least 1.5-fold and 275 genes that were downregulated at least 2-fold compared to 5 control brains. In general, upregulated genes included those encoding immune and stress-response factors and elements involved in cell death and cell cycle; downregulated genes included those encoding synaptic proteins. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p><strong><em>Sporadic Creutzfeldt-Jakob Disease (sCJD)</em></strong></p><p>
Molecular subtypes of sCJD, as identified by Parchi et al. (1999), differ in phenotypic disease expression. The most common types, MM1 and MV1 (70%) are characterized by periodic sharp-wave complexes on EEG, increased T2-, fluid attenuated inversion recovery (FLAIR), and diffusion-weighted images (DWI) signals in the basal ganglia, and 14-3-3 protein in the CSF. The second most common type, VV2 (25%), is characterized by ataxia and dementia as presenting features, median survival of 7.5 months, and absence of typical EEG findings. The rarest subtype is VV1 (1.4%) and is characterized by young age at onset, long disease duration, and slowly progressive dementia. The phenotype of VV1 is similar to variant CJD (Meissner et al., 2005). </p><p>Meissner et al. (2005) reported 9 unrelated German patients, including 8 men and 1 woman, with the rare VV1 subtype of sCJD. None had mutations in the PRNP gene. Mean age at onset was 44 years (range 19 to 55) and median duration of the illness was 21 months (17 to 49 months). The main presenting symptoms included slowly developing dementia and personality changes, including aggression, childish behavior, fear, and paranoia. Two patients had headache in addition to dementia, and 1 had apraxia of the right hand as the first sign. Eight of 9 patients later developed tonus abnormalities, such as rigidity and spasticity, and 5 had either ataxia or myoclonus. Other features included focal neurologic signs, visual and sensory disturbances, hallucinations, seizures, and chorea-ballismus. EEGs showed focal slowing without periodic sharp-wave complexes. All 7 patients imaged showed increased signals in the temporal lobes, followed by the insula and hippocampus, cingulate gyrus, and other lobes. Eight of 9 patients had increased 14-3-3 protein in the CSF, although in 1 patient, the 14-3-3 protein was no longer detectable 14 months after onset. Meissner et al. (2005) emphasized the prolonged course of these patients compared to other CJD patients and noted that suspicion of this form of sCJD disease may occur during a later stage. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Creutzfeldt-Jakob disease occurs in unusually high frequency in Chile (Masters et al., 1979). Kahana et al. (1974) described an aggregation of cases among Libyan Jews, a finding that supports the viral or the genetic hypothesis or perhaps both. </p><p>In a country-wide survey of CJD in Israel, Zilber et al. (1991) diagnosed 114 cases, among them 49 Libyan-born, with onset of disease during the years 1963-1987. After age adjustment, the mean annual incidence rate per million population was 43 among Libyan-born and 0.9 in the rest of the population. Among Jews born in Egypt and Tunisia, countries neighboring Libya, the adjusted rates were higher than in the other Israelis (3.5 and 2.3 per million, respectively). Among Libyan Jews, there was no association between incidence rate of CJD and age at immigration, i.e., duration of exposure to a hypothetical infectious factor in Libya. The percentage of familial cases among Libyan Jews (41 to 47%) is one of the highest known. Kahana et al. (1991) reported that the clinical presentation and evolution of the disease were very similar in patients born in Libya and others without Libyan ancestry but tended to be more classic in the Libyan patients, with higher frequency of myoclonic jerks and periodic EEG and a progressive course of shorter duration. </p><p>Meiner et al. (1997) reviewed familial Creutzfeldt-Jakob disease with particular reference to the E200K mutation (176640.0006), which is unusually frequent in Libyan Jews. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Gray tremor (gt) in the mouse is a transmissible spongiform encephalopathy that behaves as an autosomal recessive mutation. It has a complex phenotype including pigmentation defects, tremor, seizures, hypo- and dysmyelination in central and peripheral nervous systems, spongiform encephalopathy, and early death. The heterozygote is phenotypically normal but develops a mild spongiform encephalopathy from 2 months of age onward. Sidman et al. (1985) produced the later-expressed vacuolating disorder in genetically normal mice in transmission experiments. All 7 mice of 3 strains who were allowed to survive for the unusually long interval of 682 to 721 days after intracerebral inoculation of gt/gt brain homogenate in the neonatal period, developed spongiform changes distributed as in the mutant phenotype. </p><p>In Italy, Casalone et al. (2004) identified a novel form of BSE, which they called bovine amyloidotic spongiform encephalopathy (BASE). In 2 affected cattle, older than other affected bovines, the prion protein glycotype was clearly different from the BSE-associated prion protein molecule, and widespread prion-amyloid plaques were seen in supratentorial brain regions. Unlike typical BSE, the brainstem was less involved and no prion deposition was detected in the dorsal nucleus of the vagus nerve. Strikingly, the molecular signature of this previously undescribed bovine prion protein was similar to that encountered in a distinct subtype of sporadic CJD in humans. </p><p>Asante et al. (2006) found that transgenic mice expressing human met/val129 and inoculated with type 4 PrP(Sc), which is associated with vCJD, did not develop characteristic vCJD neuropathology. Depending on the source of the inoculum, which was derived from human and bovine prion isolates, the mice developed 4 different disease phenotypes. Mice challenged with vCJD prions had higher rates of infection than BSE-challenged mice. The findings suggested that PRNP 129 heterozygotes may be more susceptible to infection with human-passaged vCJD prions than primary infection with bovine-derived prions. </p><p>Dossena et al. (2008) generated a transgenic mouse model expressing the mouse homolog of the D178N/M129V mutation (176640.0007). These mice developed clinical and pathologic features reminiscent of CJD, including motor dysfunction, memory impairment, cerebral prion protein deposition, and gliosis. Other features included EEG abnormalities and severe alterations of sleep-wake patterns similar to those observed in human patients. Neurons from the mutant mice showed swelling of the endoplasmic reticulum (ER) with intracellular retention of mutant prion protein, suggesting that ER dysfunction could contribute to the pathology of CJD. The mutant protein was protease-resistant and formed aggregations. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Doh-ura et al. (1990); Galvez et al. (1983); Goldfarb et al. (1990);
Hadlow et al. (1980); Kovanen et al. (1980); Roos et al. (1973);
Vallat et al. (1983)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
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Goldfarb, L. G., Brown, P., Goldgaber, D., Asher, D. M., Rubenstein, R., Brown, W. T., Piccardo, P., Kascsak, R. J., Boellaard, J. W., Gajdusek, D. C.
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Goldfarb, L. G., Brown, P., Mitrova, E., Cervenakova, L., Goldin, L., Korczyn, A. D., Chapman, J., Galvez, S., Cartier, L., Rubenstein, R., Gajdusek, D. C.
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Goldfarb, L. G., Mitrova, E., Brown, P., Toh, B. H., Gajdusek, D. C.
<strong>Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. (Letter)</strong>
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[PubMed: 1975028]
[Full Text: https://doi.org/10.1016/0140-6736(90)92073-q]
</p>
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