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- #606159 - NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3
- OMIM
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<span class="h4">#606159</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/606159"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS234200"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<div><a href="https://clinicaltrials.gov/search?cond=NEURODEGENERATION WITH BRAIN IRON ACCUMULATION" 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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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0110737" 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/606159" 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:0110737" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<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;
</span>
</span>
</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> 699299001<br />
<strong>ORPHA:</strong> 157846<br />
<strong>DO:</strong> 0110737<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>
606159
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3
</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">
NEUROFERRITINOPATHY<br />
BASAL GANGLIA DISEASE, ADULT-ONSET
</span>
</h4>
</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/19/920?start=-3&limit=10&highlight=920">
19q13.33
</a>
</span>
</td>
<td>
<span class="mim-font">
Neurodegeneration with brain iron accumulation 3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606159"> 606159 </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">
FTL
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/134790"> 134790 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/606159" 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')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS234200" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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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/606159" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/606159" 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">
- Orolingual dyskinesia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3148986&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3148986</a>]</span><br /> -
Orofacial dystonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1395979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1395979</a>]</span><br /> -
Oromandibular dyskinesia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677570</a>]</span><br /> -
Hypomimia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248149005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248149005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0813217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0813217</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000338</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000338</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Blepharospasm <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59026006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59026006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005747&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005747</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000643</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Palatal tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9366002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9366002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422383007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422383007</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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1827012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1827012</a>, <a href="https://bioportal.bioontology.org/search?q=C0030214&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030214</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010530" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010530</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010530" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010530</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Pharyngeal dystonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3148987&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3148987</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Larynx </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Laryngeal dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/3331000119108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">3331000119108</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1963946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1963946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012049</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Writer's cramp <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191744004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191744004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52008007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52008007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338902&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338902</a>, <a href="https://bioportal.bioontology.org/search?q=C0154676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0154676</a>, <a href="https://bioportal.bioontology.org/search?q=C4316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002356" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002356</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002356" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002356</a>]</span><br /> -
Micrographia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/725122008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">725122008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240341</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031908" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031908</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031908" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031908</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">
- Involuntary movements, asymmetric <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3148979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3148979</a>]</span><br /> -
Gait disability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3148980&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3148980</a>]</span><br /> -
Parkinsonism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32798002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32798002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G20.C" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G20.C</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span><br /> -
Bradykinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399317006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399317006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span><br /> -
Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
Extrapyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43378000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43378000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span><br /> -
Choreoathetosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43105007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43105007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085583</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span><br /> -
Dystonia, focal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/445006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">445006008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0743332&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0743332</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004373" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004373</a>]</span><br /> -
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
Anarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48257004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48257004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1045276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1045276</a>, <a href="https://bioportal.bioontology.org/search?q=C0234517&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234517</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002425</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002425</a>]</span><br /> -
Mutism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88052002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88052002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002300</a>]</span><br /> -
Dysphonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16617009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16617009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R49.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R49.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1527344&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1527344</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001618</a>]</span><br /> -
Spasticity (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
Extensor plantar responses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246586009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246586009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366575004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366575004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span><br /> -
Rigidity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700109</a>, <a href="https://bioportal.bioontology.org/search?q=C0026837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span><br /> -
Cerebellar ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
Cerebellar signs <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 /> -
Cognitive defects develop later in the disease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3148982&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3148982</a>]</span><br /> -
Frontotemporal/subcortical dementia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3148983&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3148983</a>]</span><br /> -
Autonomic features may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3148984&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3148984</a>]</span><br /> -
Neuroaxonal spheroids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3148985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3148985</a>]</span><br /> -
MRI imaging shows cavitation of the basal ganglia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853580</a>]</span><br /> -
Brain tissue shows cavitation of the basal ganglia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853581</a>]</span><br /> -
Brain tissue shows abnormal spherical aggregates of iron and ferritin in the basal ganglia, forebrain, and cerebellum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853582&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853582</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">
- Disinhibition <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247977003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247977003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66347000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66347000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40662008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40662008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F63.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/312.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">312.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021122&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021122</a>, <a href="https://bioportal.bioontology.org/search?q=C0234410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234410</a>, <a href="https://bioportal.bioontology.org/search?q=C0424296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424296</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:5200029" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:5200029</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000734</a>]</span><br /> -
Emotional lability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18963009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18963009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R45.86" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R45.86</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085633</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000712</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Decreased serum ferritin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241012</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012343</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset 13 to 63 years of age<br /> -
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the ferritin light-chain gene (FTL, <a href="/entry/134790#0010">134790.0010</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Neurodegeneration with brain iron accumulation
- <a href="/phenotypicSeries/PS234200">PS234200</a>
- 10 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/906?start=-3&limit=10&highlight=906"> 6q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617916"> ?Neurodegeneration with brain iron accumulation 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/617916"> 617916 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614825"> REPS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614825"> 614825 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/564?start=-3&limit=10&highlight=564"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617917"> ?Neurodegeneration with brain iron accumulation 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/617917"> 617917 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600184"> CRAT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600184"> 600184 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/468?start=-3&limit=10&highlight=468"> 11q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620669"> Neurodegeneration with brain iron accumulation 9 </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">
<a href="/entry/620669"> 620669 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/134770"> FTH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/134770"> 134770 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/581?start=-3&limit=10&highlight=581"> 17q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615643"> Neurodegeneration with brain iron accumulation 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/615643"> 615643 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609855"> COASY </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609855"> 609855 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/526?start=-3&limit=10&highlight=526"> 19q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614298"> Neurodegeneration with brain iron accumulation 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/614298"> 614298 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614297"> C19orf12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614297"> 614297 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/920?start=-3&limit=10&highlight=920"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606159"> Neurodegeneration with brain iron accumulation 3 </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">
<a href="/entry/606159"> 606159 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/134790"> FTL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/134790"> 134790 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/64?start=-3&limit=10&highlight=64"> 20p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/234200"> Neurodegeneration with brain iron accumulation 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
<a href="/entry/234200"> 234200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606157"> PANK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606157"> 606157 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/268?start=-3&limit=10&highlight=268"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/256600"> Infantile neuroaxonal dystrophy 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
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<a href="/entry/256600"> 256600 </a>
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<a href="/entry/603604"> PLA2G6 </a>
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<a href="/entry/603604"> 603604 </a>
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<a href="/geneMap/22/268?start=-3&limit=10&highlight=268"> 22q13.1 </a>
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<a href="/entry/610217"> Neurodegeneration with brain iron accumulation 2B </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/610217"> 610217 </a>
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<span class="mim-font">
<a href="/entry/603604"> PLA2G6 </a>
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<span class="mim-font">
<a href="/entry/603604"> 603604 </a>
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<a href="/geneMap/X/270?start=-3&limit=10&highlight=270"> Xp11.23 </a>
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<span class="mim-font">
<a href="/entry/300894"> Neurodegeneration with brain iron accumulation 5 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/300894"> 300894 </a>
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<span class="mim-font">
<a href="/entry/300526"> WDR45 </a>
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<span class="mim-font">
<a href="/entry/300526"> 300526 </a>
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<p>A number sign (#) is used with this entry because of evidence that this form of neurodegeneration with brain iron accumulation (NBIA), here designated 'NBIA3,' is caused by heterozygous mutation in the FTL gene (<a href="/entry/134790">134790</a>) on chromosome 19q13. See NOMENCLATURE section.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (<a href="/entry/234200">234200</a>).</p>
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<p>Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by <a href="#6" class="mim-tip-reference" title="Gregory, A., Polster, B. J., Hayflick, S. J. &lt;strong&gt;Clinical and genetic delineation of neurodegeneration with brain iron accumulation.&lt;/strong&gt; J. Med. Genet. 46: 73-80, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18981035/&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;18981035&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18981035[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/10.1136/jmg.2008.061929&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="18981035">Gregory et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18981035" 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="#4" class="mim-tip-reference" title="Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J. &lt;strong&gt;Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.&lt;/strong&gt; Nature Genet. 28: 350-354, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11438811/&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;11438811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng571&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="11438811">Curtis et al. (2001)</a> described a dominantly inherited late-onset basal ganglia disease variably presenting with extrapyramidal features similar to those of Huntington disease (<a href="/entry/143100">143100</a>) or parkinsonism. The disorder typically presented with involuntary movements at 40 to 55 years of age. Symptoms of extrapyramidal dysfunction included choreoathetosis, dystonia, spasticity, and rigidity, sometimes showing acute progression but not associated with significant cognitive decline or cerebellar involvement. MRI scan showed cavitation of the basal ganglia confirmed by brain pathology. Surviving affected family members lived within a 40-km radius of the home of the earliest founder that was traced (from records circa 1790), a member of a local family from the Cumbrian region of northern England. Patients had low serum ferritin levels and abnormal aggregates of ferritin and iron in the brain. <a href="#4" class="mim-tip-reference" title="Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J. &lt;strong&gt;Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.&lt;/strong&gt; Nature Genet. 28: 350-354, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11438811/&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;11438811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng571&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="11438811">Curtis et al. (2001)</a> noted that iron deposition in the brain increases normally with age, especially in the basal ganglia, and is a suspected causative factor in several neurodegenerative diseases in which it correlates with visible pathology, possibly by its involvement in toxic free-radical reactions. Known neurologic disorders were excluded by routine diagnostic tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438811" 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="Chinnery, P. F., Curtis, A. R. J., Fey, C., Coulthard, A., Crompton, D., Curtis, A., Lombes, A., Burn, J. &lt;strong&gt;Neuroferritinopathy in a French family with late onset dominant dystonia.&lt;/strong&gt; J. Med. Genet. 40: e69, 2003. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12746423/&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;12746423&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.5.e69&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="12746423">Chinnery et al. (2003)</a> reported a French family in which 7 members developed dystonia between the ages of 24 and 58 years of age. Inheritance was autosomal dominant. Additional clinical features included dysarthria, chorea, parkinsonism, blepharospasm, and cerebellar signs. Two affected members had a frontal lobe syndrome, and 1 had dementia. MRI of 3 affected family members showed cystic changes in the basal ganglia. Skeletal muscle biopsy from 4 patients showed abnormalities of the mitochondrial respiratory chain. <a href="#5" class="mim-tip-reference" title="Devos, D., Tchofo, P. J., Vuillaume, I., Destee, A., Batey, S., Burn, J., Chinnery, P. F. &lt;strong&gt;Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. (Letter)&lt;/strong&gt; Brain 132: e109, 2009. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18854324/&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;18854324&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awn274&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="18854324">Devos et al. (2009)</a> provided further information on 4 of the affected members from the French family reported by <a href="#2" class="mim-tip-reference" title="Chinnery, P. F., Curtis, A. R. J., Fey, C., Coulthard, A., Crompton, D., Curtis, A., Lombes, A., Burn, J. &lt;strong&gt;Neuroferritinopathy in a French family with late onset dominant dystonia.&lt;/strong&gt; J. Med. Genet. 40: e69, 2003. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12746423/&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;12746423&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.5.e69&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="12746423">Chinnery et al. (2003)</a>. These patients developed symptoms between 24 and 44 years of age. Presenting features included dystonia, causing writing difficulties or a gait disorder, followed by rapid progression to orofacial, pharyngeal, and laryngeal dystonia. L-DOPA was not effective. None developed spasticity, abnormal reflexes, or marked tremor. Three deceased family members developed cerebellar ataxia. All developed a moderate subcortical/frontal dementia. Other atypical features included a limitation of vertical eye movements and mild dysautonomia, including orthostatic hypotension, constipation, and urinary incontinence. Brain imaging showed iron deposition and cystic cavitation of the basal ganglia. Serum ferritin levels were decreased. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18854324+12746423" 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="Vidal, R., Ghetti, B., Takao, M., Brefel-Courbon, C., Uro-Coste, E., Glazier, B. S., Siani, V., Benson, M. D., Calvas, P., Miravalle, L., Rascol, O., Delisle, M. B. &lt;strong&gt;Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.&lt;/strong&gt; J. Neuropath. Exp. Neurol. 63: 363-380, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15099026/&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;15099026&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/jnen/63.4.363&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="15099026">Vidal et al. (2004)</a> reported a large 5-generation French family in which 11 members had neuroferritinopathy inherited in an autosomal dominant pattern. Six affected family members were living at the time of the report. The proband first developed tremor at age 20 years. Thereafter, she had a progressive neurologic decline, characterized by frontal and subcortical cognitive impairment and involuntary movements in her mid-fifties, and pyramidal signs in her late fifties. She had dyskinesias, rigidity, hypertonicity, buccolingual dyskinesia, and dystonic posturing of the hands and feet. She became wheelchair-bound, was unable to feed herself, and died in a comatose state. Neuropathologic examination showed cerebellar and cerebral atrophy, cavitation of the putamen, and widespread ferritin inclusions in neurons and glia throughout the brain. Ferritin inclusions were also seen in extraneural tissue, including skin, muscle, and kidney. Serum ferritin was not measured. <a href="#11" class="mim-tip-reference" title="Vidal, R., Ghetti, B., Takao, M., Brefel-Courbon, C., Uro-Coste, E., Glazier, B. S., Siani, V., Benson, M. D., Calvas, P., Miravalle, L., Rascol, O., Delisle, M. B. &lt;strong&gt;Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.&lt;/strong&gt; J. Neuropath. Exp. Neurol. 63: 363-380, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15099026/&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;15099026&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/jnen/63.4.363&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="15099026">Vidal et al. (2004)</a> noted the earlier age at onset in this family compared to the family reported by <a href="#4" class="mim-tip-reference" title="Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J. &lt;strong&gt;Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.&lt;/strong&gt; Nature Genet. 28: 350-354, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11438811/&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;11438811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng571&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="11438811">Curtis et al. (2001)</a>, as well as the prominent tremor and cognitive decline in the French family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11438811+15099026" 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="#9" class="mim-tip-reference" title="Maciel, P., Cruz, V. T., Constante, M., Iniesta, I., Costa, M. C., Gallati, S., Sousa, N., Sequeiros, J., Coutinho, P., Santos, M. M. &lt;strong&gt;Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.&lt;/strong&gt; Neurology 65: 603-605, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16116125/&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;16116125&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16116125[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/10.1212/01.wnl.0000178224.81169.c2&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="16116125">Maciel et al. (2005)</a> reported a 19-year-old man with parkinsonism, ataxia, and corticospinal signs consistent with neuroferritinopathy. Genetic analysis detected a mutation in the FTL gene (A96T; <a href="/entry/134790#0013">134790.0013</a>) in the patient, his asymptomatic mother, and his asymptomatic 13-year-old brother. MRI showed bilateral pallidal necrosis in the patient and his mother, and all 3 mutation carriers had decreased serum ferritin. The patient also had mild nonprogressive cognitive deficit and episodic psychosis, which may have been unrelated since a noncarrying uncle had schizophrenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116125" 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="#1" class="mim-tip-reference" title="Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., Cooper, P., Kellett, M., Bates, D., Burn, J. &lt;strong&gt;Clinical features and natural history of neuroferritinopathy caused by the FTL1 460insA mutation.&lt;/strong&gt; Brain 130: 110-119, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17142829/&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;17142829&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awl319&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="17142829">Chinnery et al. (2007)</a> reported the clinical features of 41 individuals with neuroferritinopathy due to a 460insA mutation in the FTL gene (<a href="/entry/134790#0010">134790.0010</a>). The mean age of onset was 39.4 years (range, 13-63), presenting with chorea in 50%, focal lower limb dystonia in 42.5%, and parkinsonism in 7.5%. Other variable features included writer's cramp, blepharospasm, and palatal tremor. The disease showed progression over 5 to 10 years, resulting in a generalized disorder with severe asymmetric motor disability and dystonia, dysphagia, and aphonia, although most remained ambulatory. None developed overt spasticity, ophthalmologic changes, or seizures. The majority of patients had normal psychometric profiles and no cognitive dysfunction except for defects in verbal fluency, even after 10 years. Two patients had evidence of a frontal/subcortical dementia after 10 years, but 1 had normal cognition 36 years after onset. Overall, however, many had subtle features of disinhibition and emotional lability. Five of 6 studied had mitochondrial chain respiratory defects in skeletal muscle biopsies. Laboratory studies showed low levels in most males and postmenopausal females, but normal levels in premenopausal females. Brain imaging showed iron deposition predominantly in the basal ganglia in all affected individuals and in 1 presymptomatic carrier. Some with advanced disease showed cystic degenerative changes. The majority of patients reported a family history of a movement disorder, which was often misdiagnosed as Huntington disease, and admission to a psychiatric institution. Treatment with iron depletion therapy did not provide any benefit, at least in the short term. <a href="#1" class="mim-tip-reference" title="Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., Cooper, P., Kellett, M., Bates, D., Burn, J. &lt;strong&gt;Clinical features and natural history of neuroferritinopathy caused by the FTL1 460insA mutation.&lt;/strong&gt; Brain 130: 110-119, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17142829/&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;17142829&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awl319&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="17142829">Chinnery et al. (2007)</a> concluded that isolated parkinsonism is unusual in neuroferritinopathy, and that cognitive changes are absent or subtle in the early stages. <a href="#5" class="mim-tip-reference" title="Devos, D., Tchofo, P. J., Vuillaume, I., Destee, A., Batey, S., Burn, J., Chinnery, P. F. &lt;strong&gt;Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. (Letter)&lt;/strong&gt; Brain 132: e109, 2009. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18854324/&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;18854324&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awn274&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="18854324">Devos et al. (2009)</a> noted that 3 French patients reported by <a href="#1" class="mim-tip-reference" title="Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., Cooper, P., Kellett, M., Bates, D., Burn, J. &lt;strong&gt;Clinical features and natural history of neuroferritinopathy caused by the FTL1 460insA mutation.&lt;/strong&gt; Brain 130: 110-119, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17142829/&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;17142829&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awl319&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="17142829">Chinnery et al. (2007)</a> were found to carry a different mutation in the FTL gene (458dupA; <a href="/entry/134790#0016">134790.0016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18854324+17142829" 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="Ohta, E., Nagasaka, T., Shindo, K., Toma, S., Nagasaka, K., Ohta, K., Shiozawa, Z. &lt;strong&gt;Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene.&lt;/strong&gt; Neurology 70: 1493-1494, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18413574/&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;18413574&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000310428.74624.95&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="18413574">Ohta et al. (2008)</a> reported a Japanese mother and son with neuroferritinopathy confirmed by genetic analysis (<a href="/entry/134790#0015">134790.0015</a>). The son developed hand tremors in his mid-teens and foot dragging at age 35. By age 42, he had generalized hypotonia, hyperextensibility, unsteady gait, aphonia, micrographia, hyperreflexia, and cognitive impairment. Rigidity, spasticity, dystonia, and chorea were not observed. His mother had hand tremors at age 10, difficulty walking at age 35, developed cognitive impairment and akinetic mutism, and died at age 64. Brain imaging in both patients showed symmetric cystic changes in the basal ganglia. The son had hyperintense lesions in the basal ganglia and substantia nigra on MRI. <a href="#10" class="mim-tip-reference" title="Ohta, E., Nagasaka, T., Shindo, K., Toma, S., Nagasaka, K., Ohta, K., Shiozawa, Z. &lt;strong&gt;Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene.&lt;/strong&gt; Neurology 70: 1493-1494, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18413574/&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;18413574&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000310428.74624.95&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="18413574">Ohta et al. (2008)</a> suggested that the mutant FTL protein was unable to retain iron, which was released in the nervous system, causing oxidative damage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18413574" 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="Keogh, M. J., Jonas, P., Coulthard, A., Chinnery, P. F., Burn, J. &lt;strong&gt;Neuroferritinopathy: a new inborn error of iron metabolism.&lt;/strong&gt; Neurogenetics 13: 93-96, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22278127/&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;22278127&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22278127[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/10.1007/s10048-011-0310-9&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="22278127">Keogh et al. (2012)</a> found that 3 asymptomatic descendants of known FTL mutation carriers who themselves were carriers of a mutation (460insA; <a href="/entry/134790#0010">134790.0010</a>) had evidence of iron deposition on brain imaging. In each case, the signal abnormalities were visible on T2*-weighted MRI. The abnormalities increased with age: 1 patient between 6 and 16 years had involvement of the substantia nigra, globus pallidus, and motor cortex; a patient between 17 and 25 years had additional involvement of the red nucleus and thalamus, but not the motor cortex; and the third patient, between 26 and 36 years, had additional involvement of the caudate. The findings indicated that iron deposition in neuroferritinopathy can begin decades before symptomatic presentation, and suggested that iron deposition initiates neurodegeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22278127" 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>The transmission pattern of NBIA3 in the families reported by <a href="#4" class="mim-tip-reference" title="Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J. &lt;strong&gt;Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.&lt;/strong&gt; Nature Genet. 28: 350-354, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11438811/&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;11438811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng571&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="11438811">Curtis et al. (2001)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438811" 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>In a family with adult-onset basal ganglia disease, <a href="#4" class="mim-tip-reference" title="Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J. &lt;strong&gt;Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.&lt;/strong&gt; Nature Genet. 28: 350-354, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11438811/&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;11438811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng571&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="11438811">Curtis et al. (2001)</a> found linkage to a 3.5-cM region between D19S596 and D19S866 (maximum multipoint lod score of 6.38 for HRC.PCR3). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438811" 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 an individual with adult-onset basal ganglia disease and in 5 apparently unrelated subjects with similar extrapyramidal symptoms, <a href="#4" class="mim-tip-reference" title="Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J. &lt;strong&gt;Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.&lt;/strong&gt; Nature Genet. 28: 350-354, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11438811/&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;11438811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng571&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="11438811">Curtis et al. (2001)</a> identified an insertion mutation in the FTL gene (<a href="/entry/134790#0010">134790.0010</a>). <a href="#4" class="mim-tip-reference" title="Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J. &lt;strong&gt;Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.&lt;/strong&gt; Nature Genet. 28: 350-354, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11438811/&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;11438811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng571&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="11438811">Curtis et al. (2001)</a> proposed a dominant-negative or dominant gain-of-function effect rather than haploinsufficiency. An abnormality in ferritin strongly indicated a primary function for iron in the pathogenesis of this disease, for which they proposed the name 'neuroferritinopathy.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438811" 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 affected members of a French family with neuroferritinopathy reported by <a href="#2" class="mim-tip-reference" title="Chinnery, P. F., Curtis, A. R. J., Fey, C., Coulthard, A., Crompton, D., Curtis, A., Lombes, A., Burn, J. &lt;strong&gt;Neuroferritinopathy in a French family with late onset dominant dystonia.&lt;/strong&gt; J. Med. Genet. 40: e69, 2003. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12746423/&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;12746423&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.5.e69&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="12746423">Chinnery et al. (2003)</a>, <a href="#5" class="mim-tip-reference" title="Devos, D., Tchofo, P. J., Vuillaume, I., Destee, A., Batey, S., Burn, J., Chinnery, P. F. &lt;strong&gt;Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. (Letter)&lt;/strong&gt; Brain 132: e109, 2009. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18854324/&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;18854324&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awn274&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="18854324">Devos et al. (2009)</a> identified a mutation in the FTL gene (458dupA; <a href="/entry/134790#0016">134790.0016</a>). The family had originally been thought to have a different mutation (<a href="/entry/134790#0010">134790.0010</a>) (<a href="#2" class="mim-tip-reference" title="Chinnery, P. F., Curtis, A. R. J., Fey, C., Coulthard, A., Crompton, D., Curtis, A., Lombes, A., Burn, J. &lt;strong&gt;Neuroferritinopathy in a French family with late onset dominant dystonia.&lt;/strong&gt; J. Med. Genet. 40: e69, 2003. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12746423/&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;12746423&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.5.e69&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="12746423">Chinnery et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18854324+12746423" 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="Vidal, R., Ghetti, B., Takao, M., Brefel-Courbon, C., Uro-Coste, E., Glazier, B. S., Siani, V., Benson, M. D., Calvas, P., Miravalle, L., Rascol, O., Delisle, M. B. &lt;strong&gt;Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.&lt;/strong&gt; J. Neuropath. Exp. Neurol. 63: 363-380, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15099026/&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;15099026&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/jnen/63.4.363&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="15099026">Vidal et al. (2004)</a> identified a mutation in the FTL gene (498insTC; <a href="/entry/134790#0014">134790.0014</a>) in affected members of a French family with neuroferritinopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15099026" 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 healthy 52-year-old woman who was a control subject in a genetic study of hyperferritinemia-cataract syndrome, <a href="#3" class="mim-tip-reference" title="Cremonesi, L., Cozzi, A., Girelli, D., Ferrari, F., Fermo, I., Foglieni, B., Levi, S., Bozzini, C., Camparini, M., Ferrari, M., Arosio, P. &lt;strong&gt;Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.&lt;/strong&gt; J. Med. Genet. 41: e81, 2004. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15173247/&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;15173247&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2003.011718&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="15173247">Cremonesi et al. (2004)</a> identified a heterozygous mutation in the ATG start codon of the FTL gene (M1V; <a href="/entry/134790#0018">134790.0018</a>), predicted to disable protein translation and expression. She had no history of iron deficiency anemia or neurologic dysfunction. Hematologic examination was normal except for decreased serum L-ferritin (<a href="/entry/615604">615604</a>). The findings suggested that L-ferritin has no effect on systemic iron metabolism. The report also indicated that neuroferritinopathy is not a consequence of haploinsufficiency of L-ferritin, but likely results from gain-of-function mutations in the FTL gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173247" 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="populationGenetics" class="mim-anchor"></a>
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<strong>Population Genetics</strong>
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<p>In a nationwide survey of Japanese patients, <a href="#7" class="mim-tip-reference" title="Hirayama, K., Takayanagi, T., Nakamura, R., Yanagisawa, N., Hattori, T., Kita, K., Yanagimoto, S., Fujita, M., Nagaoka, M., Satomura, Y., Sobue, I., Iizuka, R., Toyokura, Y., Satoyoshi, E. &lt;strong&gt;Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study.&lt;/strong&gt; Acta Neurol. Scand. 89 (suppl. 153): 1-22, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8059595/&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;8059595&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0404.1994.tb05401.x&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="8059595">Hirayama et al. (1994)</a> estimated the prevalence of all forms of spinocerebellar degeneration to be 4.53 per 100,000. Of these, 1.5% were thought to have striatonigral degeneration, defined by the authors as a sporadic disorder with onset after middle age with mainly parkinsonian signs and occasionally accompanied by cerebellar ataxia, autonomic disturbance, and cerebellar atrophy on scanning. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8059595" 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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<strong>Nomenclature</strong>
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<p>Although some (see, e.g., <a href="#1" class="mim-tip-reference" title="Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., Cooper, P., Kellett, M., Bates, D., Burn, J. &lt;strong&gt;Clinical features and natural history of neuroferritinopathy caused by the FTL1 460insA mutation.&lt;/strong&gt; Brain 130: 110-119, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17142829/&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;17142829&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awl319&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="17142829">Chinnery et al., 2007</a>) have referred to neuroferritinopathy due to FTL mutations as 'neurodegeneration with brain iron accumulation-2 (NBIA2),' this disorder in OMIM is designated 'NBIA3.' The designation 'NBIA2' is reserved for disorders caused by mutation in the PLA2G6 gene (<a href="/entry/603604">603604</a>) on chromosome 22q13 (see NBIA2A, <a href="/entry/256600">256600</a> and NBIA2B, <a href="/entry/610217">610217</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17142829" 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="references"class="mim-anchor"></a>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Chinnery2007" class="mim-anchor"></a>
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Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., Cooper, P., Kellett, M., Bates, D., Burn, J.
<strong>Clinical features and natural history of neuroferritinopathy caused by the FTL1 460insA mutation.</strong>
Brain 130: 110-119, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17142829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17142829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17142829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/brain/awl319" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Chinnery2003" class="mim-anchor"></a>
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<p class="mim-text-font">
Chinnery, P. F., Curtis, A. R. J., Fey, C., Coulthard, A., Crompton, D., Curtis, A., Lombes, A., Burn, J.
<strong>Neuroferritinopathy in a French family with late onset dominant dystonia.</strong>
J. Med. Genet. 40: e69, 2003. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12746423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12746423</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12746423" 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.40.5.e69" target="_blank">Full Text</a>]
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<a id="Cremonesi2004" class="mim-anchor"></a>
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Cremonesi, L., Cozzi, A., Girelli, D., Ferrari, F., Fermo, I., Foglieni, B., Levi, S., Bozzini, C., Camparini, M., Ferrari, M., Arosio, P.
<strong>Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.</strong>
J. Med. Genet. 41: e81, 2004. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15173247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15173247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15173247" 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.2003.011718" target="_blank">Full Text</a>]
</p>
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<a id="Curtis2001" class="mim-anchor"></a>
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Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J.
<strong>Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.</strong>
Nature Genet. 28: 350-354, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11438811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11438811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11438811" 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/ng571" target="_blank">Full Text</a>]
</p>
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<a id="Devos2009" class="mim-anchor"></a>
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Devos, D., Tchofo, P. J., Vuillaume, I., Destee, A., Batey, S., Burn, J., Chinnery, P. F.
<strong>Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. (Letter)</strong>
Brain 132: e109, 2009. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854324</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18854324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/brain/awn274" target="_blank">Full Text</a>]
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<a id="Gregory2009" class="mim-anchor"></a>
<div class="">
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Gregory, A., Polster, B. J., Hayflick, S. J.
<strong>Clinical and genetic delineation of neurodegeneration with brain iron accumulation.</strong>
J. Med. Genet. 46: 73-80, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18981035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18981035</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18981035[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=18981035" 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.2008.061929" target="_blank">Full Text</a>]
</p>
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<a id="Hirayama1994" class="mim-anchor"></a>
<div class="">
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Hirayama, K., Takayanagi, T., Nakamura, R., Yanagisawa, N., Hattori, T., Kita, K., Yanagimoto, S., Fujita, M., Nagaoka, M., Satomura, Y., Sobue, I., Iizuka, R., Toyokura, Y., Satoyoshi, E.
<strong>Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study.</strong>
Acta Neurol. Scand. 89 (suppl. 153): 1-22, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8059595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8059595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8059595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1600-0404.1994.tb05401.x" target="_blank">Full Text</a>]
</p>
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<a id="Keogh2012" class="mim-anchor"></a>
<div class="">
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Keogh, M. J., Jonas, P., Coulthard, A., Chinnery, P. F., Burn, J.
<strong>Neuroferritinopathy: a new inborn error of iron metabolism.</strong>
Neurogenetics 13: 93-96, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22278127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22278127</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22278127[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=22278127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10048-011-0310-9" target="_blank">Full Text</a>]
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<a id="Maciel2005" class="mim-anchor"></a>
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Maciel, P., Cruz, V. T., Constante, M., Iniesta, I., Costa, M. C., Gallati, S., Sousa, N., Sequeiros, J., Coutinho, P., Santos, M. M.
<strong>Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.</strong>
Neurology 65: 603-605, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116125</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16116125[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=16116125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000178224.81169.c2" target="_blank">Full Text</a>]
</p>
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<a id="Ohta2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ohta, E., Nagasaka, T., Shindo, K., Toma, S., Nagasaka, K., Ohta, K., Shiozawa, Z.
<strong>Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene.</strong>
Neurology 70: 1493-1494, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18413574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18413574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18413574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000310428.74624.95" target="_blank">Full Text</a>]
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<a id="Vidal2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vidal, R., Ghetti, B., Takao, M., Brefel-Courbon, C., Uro-Coste, E., Glazier, B. S., Siani, V., Benson, M. D., Calvas, P., Miravalle, L., Rascol, O., Delisle, M. B.
<strong>Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.</strong>
J. Neuropath. Exp. Neurol. 63: 363-380, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15099026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15099026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15099026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/jnen/63.4.363" target="_blank">Full Text</a>]
</p>
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Cassandra L. Kniffin - updated : 6/13/2012
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Cassandra L. Kniffin - updated : 5/14/2007<br>Cassandra L. Kniffin - updated : 10/31/2005<br>Cassandra L. Kniffin - reorganized : 9/7/2004
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Ada Hamosh : 7/30/2001
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alopez : 11/21/2023
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carol : 06/14/2016<br>carol : 6/14/2016<br>mcolton : 2/24/2014<br>carol : 1/15/2014<br>ckniffin : 1/15/2014<br>carol : 5/23/2013<br>alopez : 6/19/2012<br>ckniffin : 6/13/2012<br>wwang : 6/10/2011<br>carol : 4/5/2010<br>carol : 3/1/2010<br>ckniffin : 2/19/2010<br>wwang : 5/16/2007<br>ckniffin : 5/14/2007<br>wwang : 11/21/2005<br>wwang : 11/3/2005<br>ckniffin : 10/31/2005<br>ckniffin : 1/26/2005<br>ckniffin : 1/26/2005<br>carol : 9/7/2004<br>ckniffin : 9/1/2004<br>alopez : 7/30/2001
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<h3>
<span class="mim-font">
<strong>#</strong> 606159
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<span class="mim-font">
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3
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<em>Alternative titles; symbols</em>
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NEUROFERRITINOPATHY<br />
BASAL GANGLIA DISEASE, ADULT-ONSET
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<strong>SNOMEDCT:</strong> 699299001; &nbsp;
<strong>ORPHA:</strong> 157846; &nbsp;
<strong>DO:</strong> 0110737; &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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<span class="mim-font">
19q13.33
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Neurodegeneration with brain iron accumulation 3
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606159
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Autosomal dominant
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3
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FTL
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134790
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that this form of neurodegeneration with brain iron accumulation (NBIA), here designated 'NBIA3,' is caused by heterozygous mutation in the FTL gene (134790) on chromosome 19q13. See NOMENCLATURE section.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).</p>
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<strong>Description</strong>
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<p>Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by Gregory et al., 2009). </p>
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<strong>Clinical Features</strong>
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<p>Curtis et al. (2001) described a dominantly inherited late-onset basal ganglia disease variably presenting with extrapyramidal features similar to those of Huntington disease (143100) or parkinsonism. The disorder typically presented with involuntary movements at 40 to 55 years of age. Symptoms of extrapyramidal dysfunction included choreoathetosis, dystonia, spasticity, and rigidity, sometimes showing acute progression but not associated with significant cognitive decline or cerebellar involvement. MRI scan showed cavitation of the basal ganglia confirmed by brain pathology. Surviving affected family members lived within a 40-km radius of the home of the earliest founder that was traced (from records circa 1790), a member of a local family from the Cumbrian region of northern England. Patients had low serum ferritin levels and abnormal aggregates of ferritin and iron in the brain. Curtis et al. (2001) noted that iron deposition in the brain increases normally with age, especially in the basal ganglia, and is a suspected causative factor in several neurodegenerative diseases in which it correlates with visible pathology, possibly by its involvement in toxic free-radical reactions. Known neurologic disorders were excluded by routine diagnostic tests. </p><p>Chinnery et al. (2003) reported a French family in which 7 members developed dystonia between the ages of 24 and 58 years of age. Inheritance was autosomal dominant. Additional clinical features included dysarthria, chorea, parkinsonism, blepharospasm, and cerebellar signs. Two affected members had a frontal lobe syndrome, and 1 had dementia. MRI of 3 affected family members showed cystic changes in the basal ganglia. Skeletal muscle biopsy from 4 patients showed abnormalities of the mitochondrial respiratory chain. Devos et al. (2009) provided further information on 4 of the affected members from the French family reported by Chinnery et al. (2003). These patients developed symptoms between 24 and 44 years of age. Presenting features included dystonia, causing writing difficulties or a gait disorder, followed by rapid progression to orofacial, pharyngeal, and laryngeal dystonia. L-DOPA was not effective. None developed spasticity, abnormal reflexes, or marked tremor. Three deceased family members developed cerebellar ataxia. All developed a moderate subcortical/frontal dementia. Other atypical features included a limitation of vertical eye movements and mild dysautonomia, including orthostatic hypotension, constipation, and urinary incontinence. Brain imaging showed iron deposition and cystic cavitation of the basal ganglia. Serum ferritin levels were decreased. </p><p>Vidal et al. (2004) reported a large 5-generation French family in which 11 members had neuroferritinopathy inherited in an autosomal dominant pattern. Six affected family members were living at the time of the report. The proband first developed tremor at age 20 years. Thereafter, she had a progressive neurologic decline, characterized by frontal and subcortical cognitive impairment and involuntary movements in her mid-fifties, and pyramidal signs in her late fifties. She had dyskinesias, rigidity, hypertonicity, buccolingual dyskinesia, and dystonic posturing of the hands and feet. She became wheelchair-bound, was unable to feed herself, and died in a comatose state. Neuropathologic examination showed cerebellar and cerebral atrophy, cavitation of the putamen, and widespread ferritin inclusions in neurons and glia throughout the brain. Ferritin inclusions were also seen in extraneural tissue, including skin, muscle, and kidney. Serum ferritin was not measured. Vidal et al. (2004) noted the earlier age at onset in this family compared to the family reported by Curtis et al. (2001), as well as the prominent tremor and cognitive decline in the French family. </p><p>Maciel et al. (2005) reported a 19-year-old man with parkinsonism, ataxia, and corticospinal signs consistent with neuroferritinopathy. Genetic analysis detected a mutation in the FTL gene (A96T; 134790.0013) in the patient, his asymptomatic mother, and his asymptomatic 13-year-old brother. MRI showed bilateral pallidal necrosis in the patient and his mother, and all 3 mutation carriers had decreased serum ferritin. The patient also had mild nonprogressive cognitive deficit and episodic psychosis, which may have been unrelated since a noncarrying uncle had schizophrenia. </p><p>Chinnery et al. (2007) reported the clinical features of 41 individuals with neuroferritinopathy due to a 460insA mutation in the FTL gene (134790.0010). The mean age of onset was 39.4 years (range, 13-63), presenting with chorea in 50%, focal lower limb dystonia in 42.5%, and parkinsonism in 7.5%. Other variable features included writer's cramp, blepharospasm, and palatal tremor. The disease showed progression over 5 to 10 years, resulting in a generalized disorder with severe asymmetric motor disability and dystonia, dysphagia, and aphonia, although most remained ambulatory. None developed overt spasticity, ophthalmologic changes, or seizures. The majority of patients had normal psychometric profiles and no cognitive dysfunction except for defects in verbal fluency, even after 10 years. Two patients had evidence of a frontal/subcortical dementia after 10 years, but 1 had normal cognition 36 years after onset. Overall, however, many had subtle features of disinhibition and emotional lability. Five of 6 studied had mitochondrial chain respiratory defects in skeletal muscle biopsies. Laboratory studies showed low levels in most males and postmenopausal females, but normal levels in premenopausal females. Brain imaging showed iron deposition predominantly in the basal ganglia in all affected individuals and in 1 presymptomatic carrier. Some with advanced disease showed cystic degenerative changes. The majority of patients reported a family history of a movement disorder, which was often misdiagnosed as Huntington disease, and admission to a psychiatric institution. Treatment with iron depletion therapy did not provide any benefit, at least in the short term. Chinnery et al. (2007) concluded that isolated parkinsonism is unusual in neuroferritinopathy, and that cognitive changes are absent or subtle in the early stages. Devos et al. (2009) noted that 3 French patients reported by Chinnery et al. (2007) were found to carry a different mutation in the FTL gene (458dupA; 134790.0016). </p><p>Ohta et al. (2008) reported a Japanese mother and son with neuroferritinopathy confirmed by genetic analysis (134790.0015). The son developed hand tremors in his mid-teens and foot dragging at age 35. By age 42, he had generalized hypotonia, hyperextensibility, unsteady gait, aphonia, micrographia, hyperreflexia, and cognitive impairment. Rigidity, spasticity, dystonia, and chorea were not observed. His mother had hand tremors at age 10, difficulty walking at age 35, developed cognitive impairment and akinetic mutism, and died at age 64. Brain imaging in both patients showed symmetric cystic changes in the basal ganglia. The son had hyperintense lesions in the basal ganglia and substantia nigra on MRI. Ohta et al. (2008) suggested that the mutant FTL protein was unable to retain iron, which was released in the nervous system, causing oxidative damage. </p><p>Keogh et al. (2012) found that 3 asymptomatic descendants of known FTL mutation carriers who themselves were carriers of a mutation (460insA; 134790.0010) had evidence of iron deposition on brain imaging. In each case, the signal abnormalities were visible on T2*-weighted MRI. The abnormalities increased with age: 1 patient between 6 and 16 years had involvement of the substantia nigra, globus pallidus, and motor cortex; a patient between 17 and 25 years had additional involvement of the red nucleus and thalamus, but not the motor cortex; and the third patient, between 26 and 36 years, had additional involvement of the caudate. The findings indicated that iron deposition in neuroferritinopathy can begin decades before symptomatic presentation, and suggested that iron deposition initiates neurodegeneration. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of NBIA3 in the families reported by Curtis et al. (2001) was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>In a family with adult-onset basal ganglia disease, Curtis et al. (2001) found linkage to a 3.5-cM region between D19S596 and D19S866 (maximum multipoint lod score of 6.38 for HRC.PCR3). </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>In an individual with adult-onset basal ganglia disease and in 5 apparently unrelated subjects with similar extrapyramidal symptoms, Curtis et al. (2001) identified an insertion mutation in the FTL gene (134790.0010). Curtis et al. (2001) proposed a dominant-negative or dominant gain-of-function effect rather than haploinsufficiency. An abnormality in ferritin strongly indicated a primary function for iron in the pathogenesis of this disease, for which they proposed the name 'neuroferritinopathy.' </p><p>In affected members of a French family with neuroferritinopathy reported by Chinnery et al. (2003), Devos et al. (2009) identified a mutation in the FTL gene (458dupA; 134790.0016). The family had originally been thought to have a different mutation (134790.0010) (Chinnery et al., 2003). </p><p>Vidal et al. (2004) identified a mutation in the FTL gene (498insTC; 134790.0014) in affected members of a French family with neuroferritinopathy. </p><p>In a healthy 52-year-old woman who was a control subject in a genetic study of hyperferritinemia-cataract syndrome, Cremonesi et al. (2004) identified a heterozygous mutation in the ATG start codon of the FTL gene (M1V; 134790.0018), predicted to disable protein translation and expression. She had no history of iron deficiency anemia or neurologic dysfunction. Hematologic examination was normal except for decreased serum L-ferritin (615604). The findings suggested that L-ferritin has no effect on systemic iron metabolism. The report also indicated that neuroferritinopathy is not a consequence of haploinsufficiency of L-ferritin, but likely results from gain-of-function mutations in the FTL gene. </p>
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<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
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<p>In a nationwide survey of Japanese patients, Hirayama et al. (1994) estimated the prevalence of all forms of spinocerebellar degeneration to be 4.53 per 100,000. Of these, 1.5% were thought to have striatonigral degeneration, defined by the authors as a sporadic disorder with onset after middle age with mainly parkinsonian signs and occasionally accompanied by cerebellar ataxia, autonomic disturbance, and cerebellar atrophy on scanning. </p>
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<strong>Nomenclature</strong>
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<p>Although some (see, e.g., Chinnery et al., 2007) have referred to neuroferritinopathy due to FTL mutations as 'neurodegeneration with brain iron accumulation-2 (NBIA2),' this disorder in OMIM is designated 'NBIA3.' The designation 'NBIA2' is reserved for disorders caused by mutation in the PLA2G6 gene (603604) on chromosome 22q13 (see NBIA2A, 256600 and NBIA2B, 610217). </p>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<ol>
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<p class="mim-text-font">
Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., Cooper, P., Kellett, M., Bates, D., Burn, J.
<strong>Clinical features and natural history of neuroferritinopathy caused by the FTL1 460insA mutation.</strong>
Brain 130: 110-119, 2007.
[PubMed: 17142829]
[Full Text: https://doi.org/10.1093/brain/awl319]
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<p class="mim-text-font">
Chinnery, P. F., Curtis, A. R. J., Fey, C., Coulthard, A., Crompton, D., Curtis, A., Lombes, A., Burn, J.
<strong>Neuroferritinopathy in a French family with late onset dominant dystonia.</strong>
J. Med. Genet. 40: e69, 2003. Note: Electronic Article.
[PubMed: 12746423]
[Full Text: https://doi.org/10.1136/jmg.40.5.e69]
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<li>
<p class="mim-text-font">
Cremonesi, L., Cozzi, A., Girelli, D., Ferrari, F., Fermo, I., Foglieni, B., Levi, S., Bozzini, C., Camparini, M., Ferrari, M., Arosio, P.
<strong>Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.</strong>
J. Med. Genet. 41: e81, 2004. Note: Electronic Article.
[PubMed: 15173247]
[Full Text: https://doi.org/10.1136/jmg.2003.011718]
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<li>
<p class="mim-text-font">
Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., Hay, D., Barker, W. A., Markham, A. F., Bates, D., Curtis, A., Burn, J.
<strong>Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.</strong>
Nature Genet. 28: 350-354, 2001.
[PubMed: 11438811]
[Full Text: https://doi.org/10.1038/ng571]
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<li>
<p class="mim-text-font">
Devos, D., Tchofo, P. J., Vuillaume, I., Destee, A., Batey, S., Burn, J., Chinnery, P. F.
<strong>Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. (Letter)</strong>
Brain 132: e109, 2009. Note: Electronic Article.
[PubMed: 18854324]
[Full Text: https://doi.org/10.1093/brain/awn274]
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<li>
<p class="mim-text-font">
Gregory, A., Polster, B. J., Hayflick, S. J.
<strong>Clinical and genetic delineation of neurodegeneration with brain iron accumulation.</strong>
J. Med. Genet. 46: 73-80, 2009.
[PubMed: 18981035]
[Full Text: https://doi.org/10.1136/jmg.2008.061929]
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<li>
<p class="mim-text-font">
Hirayama, K., Takayanagi, T., Nakamura, R., Yanagisawa, N., Hattori, T., Kita, K., Yanagimoto, S., Fujita, M., Nagaoka, M., Satomura, Y., Sobue, I., Iizuka, R., Toyokura, Y., Satoyoshi, E.
<strong>Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study.</strong>
Acta Neurol. Scand. 89 (suppl. 153): 1-22, 1994.
[PubMed: 8059595]
[Full Text: https://doi.org/10.1111/j.1600-0404.1994.tb05401.x]
</p>
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<li>
<p class="mim-text-font">
Keogh, M. J., Jonas, P., Coulthard, A., Chinnery, P. F., Burn, J.
<strong>Neuroferritinopathy: a new inborn error of iron metabolism.</strong>
Neurogenetics 13: 93-96, 2012.
[PubMed: 22278127]
[Full Text: https://doi.org/10.1007/s10048-011-0310-9]
</p>
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<li>
<p class="mim-text-font">
Maciel, P., Cruz, V. T., Constante, M., Iniesta, I., Costa, M. C., Gallati, S., Sousa, N., Sequeiros, J., Coutinho, P., Santos, M. M.
<strong>Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.</strong>
Neurology 65: 603-605, 2005.
[PubMed: 16116125]
[Full Text: https://doi.org/10.1212/01.wnl.0000178224.81169.c2]
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<li>
<p class="mim-text-font">
Ohta, E., Nagasaka, T., Shindo, K., Toma, S., Nagasaka, K., Ohta, K., Shiozawa, Z.
<strong>Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene.</strong>
Neurology 70: 1493-1494, 2008.
[PubMed: 18413574]
[Full Text: https://doi.org/10.1212/01.wnl.0000310428.74624.95]
</p>
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<li>
<p class="mim-text-font">
Vidal, R., Ghetti, B., Takao, M., Brefel-Courbon, C., Uro-Coste, E., Glazier, B. S., Siani, V., Benson, M. D., Calvas, P., Miravalle, L., Rascol, O., Delisle, M. B.
<strong>Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.</strong>
J. Neuropath. Exp. Neurol. 63: 363-380, 2004.
[PubMed: 15099026]
[Full Text: https://doi.org/10.1093/jnen/63.4.363]
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Cassandra L. Kniffin - updated : 6/13/2012<br>Cassandra L. Kniffin - updated : 5/14/2007<br>Cassandra L. Kniffin - updated : 10/31/2005<br>Cassandra L. Kniffin - reorganized : 9/7/2004
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Ada Hamosh : 7/30/2001
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Edit History:
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alopez : 11/21/2023<br>carol : 06/14/2016<br>carol : 6/14/2016<br>mcolton : 2/24/2014<br>carol : 1/15/2014<br>ckniffin : 1/15/2014<br>carol : 5/23/2013<br>alopez : 6/19/2012<br>ckniffin : 6/13/2012<br>wwang : 6/10/2011<br>carol : 4/5/2010<br>carol : 3/1/2010<br>ckniffin : 2/19/2010<br>wwang : 5/16/2007<br>ckniffin : 5/14/2007<br>wwang : 11/21/2005<br>wwang : 11/3/2005<br>ckniffin : 10/31/2005<br>ckniffin : 1/26/2005<br>ckniffin : 1/26/2005<br>carol : 9/7/2004<br>ckniffin : 9/1/2004<br>alopez : 7/30/2001
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