2724 lines
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Entry
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- #263570 - POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM; APBN
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- OMIM
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<span class="h4">#263570</span>
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<br />
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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/263570"><strong>Clinical Synopsis</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="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18528&Typ=Pat" title="Adult polyglucosan body disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Adult polyglucosan body di… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=16&Typ=Pat" title="Glycogen storage disease due to glycogen branching enzyme deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Glycogen storage disease d… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK5300/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5839" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/adult-polyglucosan-body-disease" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=263570[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206583" title="Adult polyglucosan body disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Adult polyglucosan body di…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=367" title="Glycogen storage disease due to glycogen branching enzyme deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Glycogen storage disease d…</a></div>
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</div>
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</div>
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<span>
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<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.">
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</span>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 721099001<br />
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<strong>ORPHA:</strong> 206583, 367<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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263570
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM; APBN
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/472?start=-3&limit=10&highlight=472">
|
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3p12.2
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</a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Polyglucosan body disease, adult form
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/263570"> 263570 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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GBE1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607839"> 607839 </a>
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</span>
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</td>
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</table>
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<div>
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<a href="/clinicalSynopsis/263570" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<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>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/263570" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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|
<li><a href="/graph/radial/263570" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
|
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</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>
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<div>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </strong>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Eyes </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Saccadic movements (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3281232&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3281232</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Orthostatic hypotension (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28651003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28651003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I95.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I95.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/458.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">458.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020651</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001278</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001278</a>]</span><br />
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|
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</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neurogenic bladder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397732007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397732007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12454008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12454008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398064005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398064005</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/344.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">344.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/596.54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">596.54</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005697</a>, <a href="https://bioportal.bioontology.org/search?q=C5848144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848144</a>, <a href="https://bioportal.bioontology.org/search?q=C0007459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007459</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000011" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000011</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000011" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000011</a>]</span><br /> -
|
|
Micturition difficulties <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/102835006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">102835006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16844001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16844001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R30.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R30.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241705</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
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|
|
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|
|
|
|
|
|
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|
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|
|
<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">
|
|
|
|
- Gait disturbance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
|
|
Upper motor neuron signs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0749870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0749870</a>]</span><br /> -
|
|
Spastic paraplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192967009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192967009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037772</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span><br /> -
|
|
Pyramidal tetraparesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849723&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849723</a>]</span><br /> -
|
|
Neurogenic bladder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397732007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397732007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12454008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12454008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398064005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398064005</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/344.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">344.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/596.54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">596.54</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005697</a>, <a href="https://bioportal.bioontology.org/search?q=C5848144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848144</a>, <a href="https://bioportal.bioontology.org/search?q=C0007459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007459</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000011" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000011</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000011" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000011</a>]</span><br /> -
|
|
Cognitive impairment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span><br /> -
|
|
White matter abnormalities seen on MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002500" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002500</a>]</span><br /> -
|
|
Polyglucosan bodies (round intracellular inclusions) found in neuronal and astrocytic processes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849725&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849725</a>]</span><br /> -
|
|
Spinal cord atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389102&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389102</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006827</a>]</span><br /> -
|
|
Medullary atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315731</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Peripheral axonal neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128208007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128208007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1263857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1263857</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003477</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003477</a>]</span><br /> -
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Paresthesias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91019004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91019004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003401</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003401</a>]</span><br />
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- Decreased or absent glycogen branching enzyme activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849726</a>]</span><br />
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- Caused by mutation in the glycogen branching enzyme gene (GBE1, <a href="/entry/607839#0002">607839.0002</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because adult polyglucosan body neuropathy (APBN) is caused by homozygous or compound heterozygous mutation in the glycogen branching enzyme gene (GBE1; <a href="/entry/607839">607839</a>) on chromosome 3p12.</p><p>Mutation in the GBE1 gene also causes type IV glycogen storage disease (GSD IV; <a href="/entry/232500">232500</a>), an early childhood disorder with systemic manifestations.</p>
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<p>Adult polyglucosan body neuropathy (APBN) is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of the disorder is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes (summary by <a href="#6" class="mim-tip-reference" title="Lossos, A., Meiner, Z., Barash, V., Soffer, D., Schlesinger, I., Abramsky, O., Argov, Z., Shpitzen, S., Meiner, V. <strong>Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the tyr329ser mutation in the glycogen-branching enzyme gene.</strong> Ann. Neurol. 44: 867-872, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9851430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9851430</a>] [<a href="https://doi.org/10.1002/ana.410440604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9851430">Lossos et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9851430" 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="#10" class="mim-tip-reference" title="Robitaille, Y., Carpenter, S., Karpati, G., DiMauro, S. <strong>A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing.</strong> Brain 103: 315-336, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6249438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6249438</a>] [<a href="https://doi.org/10.1093/brain/103.2.315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6249438">Robitaille et al. (1980)</a> reported 4 patients with a clinically and histopathologically unusual disorder. Two of them were sibs; in Case 4, the authors stated that 'she is the sister of Case 3.' Curiously, the sex in Case 3 was not given explicitly or implicitly. The clinical manifestations were those of progressive lower and upper motor neuron deficits, marked sensory loss in the legs, neurogenic bladder, and, in 2 of the 4, dementia. Autopsy in 2 showed a profusion of microscopic bodies resembling corpora amylacea or Lafora bodies, but restricted to processes of neurons and astrocytes, rather than being perikaryotic. Similar but especially large bodies were seen within axons of sural nerves taken at biopsy from the other 2 patients. In addition to Lafora disease, polyglucosan bodies occur in type IV glycogenosis, in the 'normal' course of aging, in rats rendered diabetic by alloxan, and in a form of amyotrophic lateral sclerosis (<a href="/entry/205250">205250</a>). Cases similar to those of <a href="#10" class="mim-tip-reference" title="Robitaille, Y., Carpenter, S., Karpati, G., DiMauro, S. <strong>A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing.</strong> Brain 103: 315-336, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6249438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6249438</a>] [<a href="https://doi.org/10.1093/brain/103.2.315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6249438">Robitaille et al. (1980)</a> were reported by <a href="#8" class="mim-tip-reference" title="Peress, N. S., DiMauro, S., Roxburgh, V. A. <strong>Adult polysaccharidosis: clinicopathological, ultrastructural and biochemical features.</strong> Arch. Neurol. 36: 840-845, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/508148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">508148</a>] [<a href="https://doi.org/10.1001/archneur.1979.00500490054009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="508148">Peress et al. (1979)</a> and <a href="#11" class="mim-tip-reference" title="Suzuki, K., David, E., Kutschman, B. <strong>Presenile dementia with 'Lafora-like' intraneuronal inclusions.</strong> Arch. Neurol. 25: 69-79, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4111956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4111956</a>] [<a href="https://doi.org/10.1001/archneur.1971.00490010079011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4111956">Suzuki et al. (1971)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=508148+6249438+4111956" 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="#5" class="mim-tip-reference" title="Lossos, A., Barash, V., Soffer, D., Argov, Z., Gomori, M., Ben-Nariah, Z., Abramsky, O., Steiner, I. <strong>Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients.</strong> Ann. Neurol. 30: 655-662, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1763891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1763891</a>] [<a href="https://doi.org/10.1002/ana.410300505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1763891">Lossos et al. (1991)</a> described 2 unrelated patients diagnosed by sural nerve biopsy. Both were offspring of consanguineous marriages. They presented clinically with late-onset pyramidal tetraparesis, micturition difficulties, peripheral neuropathy, and mild cognitive impairment. Magnetic resonance imaging showed extensive white matter abnormalities in both. <a href="#5" class="mim-tip-reference" title="Lossos, A., Barash, V., Soffer, D., Argov, Z., Gomori, M., Ben-Nariah, Z., Abramsky, O., Steiner, I. <strong>Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients.</strong> Ann. Neurol. 30: 655-662, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1763891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1763891</a>] [<a href="https://doi.org/10.1002/ana.410300505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1763891">Lossos et al. (1991)</a> found that branching enzyme activity in the polymorphonuclear leukocytes of the patients was about 15% of control values, whereas their children displayed values of 50 to 60%, consistent with heterozygous state of an autosomal recessive disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1763891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bruno, C., Servidei, S., Shanske, S., Karpati, G., Carpenter, S., McKee, D., Barohn, R. J., Hirano, M., Rifai, Z., DiMauro, S. <strong>Glycogen branching enzyme deficiency in adult polyglucosan body disease.</strong> Ann. Neurol. 33: 88-93, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8494336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8494336</a>] [<a href="https://doi.org/10.1002/ana.410330114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8494336">Bruno et al. (1993)</a> analyzed branching enzyme activity in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi-Jewish patients with adult polyglucosan body disease and from 1 African American patient and 3 Caucasian patients with the same clinical and pathologic features. One patient was a 66-year-old woman with progressive gait disturbance for 13 years and urinary frequency and mild urgency incontinence for 5 years. She had signs of peripheral neuropathy. A brother died with the diagnosis of multiple sclerosis, but autopsy revealed adult polyglucosan body disease with marked central and peripheral nerve system involvement. A 46-year-old French Canadian woman had progressive gait disturbance and urinary incontinence over an 8-year period. Branching enzyme activity was normal in muscle specimens from all patients. The activity was markedly decreased in both leukocytes and peripheral nerve specimens of the 2 Jewish patients, and normal in nerve tissue and leukocytes from all non-Jewish patients. <a href="#3" class="mim-tip-reference" title="Bruno, C., Servidei, S., Shanske, S., Karpati, G., Carpenter, S., McKee, D., Barohn, R. J., Hirano, M., Rifai, Z., DiMauro, S. <strong>Glycogen branching enzyme deficiency in adult polyglucosan body disease.</strong> Ann. Neurol. 33: 88-93, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8494336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8494336</a>] [<a href="https://doi.org/10.1002/ana.410330114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8494336">Bruno et al. (1993)</a> concluded that there is a deficiency of branching enzyme in a subgroup of patients with APBD, in their experience of only Ashkenazi Jewish patients, and that APBD has more than one biochemical basis. Since the enzyme levels were normal in muscle, even in the Jewish patients, the defect is tissue-specific. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8494336" 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="Rifai, Z., Klitzke, M., Tawil, R., Kazee, A. M., Shanske, S., DiMauro, S., Griggs, R. C. <strong>Dementia of adult polyglucosan body disease: evidence of cortical and subcortical dysfunction.</strong> Arch. Neurol. 51: 90-94, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8274116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8274116</a>] [<a href="https://doi.org/10.1001/archneur.1994.00540130124021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8274116">Rifai et al. (1994)</a> reported the case of a 56-year-old man who presented with lower-limb stiffness and weakness that had progressed for 15 years. They found that he had a dementia that affected cortical and subcortical functions and that the cognitive deficits correlated with MRI findings of cortical atrophy and white matter abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8274116" 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="#6" class="mim-tip-reference" title="Lossos, A., Meiner, Z., Barash, V., Soffer, D., Schlesinger, I., Abramsky, O., Argov, Z., Shpitzen, S., Meiner, V. <strong>Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the tyr329ser mutation in the glycogen-branching enzyme gene.</strong> Ann. Neurol. 44: 867-872, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9851430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9851430</a>] [<a href="https://doi.org/10.1002/ana.410440604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9851430">Lossos et al. (1998)</a> reported 7 patients with APBD from 5 unrelated Jewish families: 4 were of Ashkenazi origin and 1 descended from both Ashkenazi and Sephardi ancestors. All patients manifested signs of CNS and PNS involvement, including gait abnormalities, micturition problems, paresthesias, and cognitive impairment. Brain MRI showed white matter abnormalities, and sural nerve biopsies showed intraaxonal polyglucosan bodies. None of the patients had cardiomyopathy or liver dysfunction. Leukocyte GBE activity was undetectable in all 7 patients and was reduced to about 50% in their tested children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9851430" 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="#7" class="mim-tip-reference" title="Mochel, F., Schiffmann, R., Steenweg, M. E., Akman, H. O., Wallace, M., Sedel, F., Laforet, P., Levy, R., Powers, J. M., Demeret, S., Maisonobe, T., Froissart, R., and 12 others. <strong>Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings.</strong> Ann. Neurol. 72: 433-441, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23034915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23034915</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23034915[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.23598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23034915">Mochel et al. (2012)</a> reviewed the clinical features of 50 patients from 47 families with APBD confirmed by genetic analysis or GBE1 enzyme deficiency (less than 25% of controls). Most of the patients (73%) were of Ashkenazi Jewish descent, although patients of Latin American, Pacific Islander, Caucasian, and Cambodian background were also identified. Almost all patients developed symptoms after age 40, most commonly bladder dysfunction. Impotence was also a common complaint among men. Gait difficulties due to spastic paraplegia were the second most common problem, and about 50% of patients lost ambulation in the mid-sixties. Most patients (94%) had loss of vibration sense in the lower limbs associated with an axonal sensorimotor polyneuropathy with reduced compound motor action potentials. Sural nerve biopsy showed abundant intraaxonal polyglucosan bodies. Other variable common features included spasticity in the upper limbs (12%), saccadic pursuit (39%), slow saccades (20%), orthostatic hypotension (31%), and bradykinesia (14%). Brain and spinal imaging showed medullary and spinal atrophy, often with enlarged ventricles, cerebellar atrophy, thin corpus callosum, and periventricular and brainstem white matter lesions. Almost half of patients had mild attention and memory deficits. Overall, the patients had a median survival of 70 years, which is 8 years less than the general population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23034915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., Kang, P. B., Landstrom, A. P., Akman, H. O., Burrow, T. A., Orthmann-Murphy, J. L., Goldman, D. S., Pendyal, S., El-Gharbawy, A. H., Austin, S. L., Case, L. E., Schiffmann, R., Hirano, M., Kishnani, P. S. <strong>Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: a clinical practice resource.</strong> Molec. Genet. Metab. 138: 107525, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36796138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36796138</a>] [<a href="https://doi.org/10.1016/j.ymgme.2023.107525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36796138">Koch et al. (2023)</a> described clinical features of APBD in a review and consensus paper. Neurogenic bladder was the typical initial manifestation with a median onset of 15 years of age, with difficulty walking beginning at an average age of 53 years and progression to wheelchair dependence at a median age of 64 years. Other manifestations included sexual dysfunction; abnormal eye movements including saccadic pursuit; ataxia; dysautonomia; and bradykinesia. Cognitive decline was seen in 50% of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36796138" 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="Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., Kang, P. B., Landstrom, A. P., Akman, H. O., Burrow, T. A., Orthmann-Murphy, J. L., Goldman, D. S., Pendyal, S., El-Gharbawy, A. H., Austin, S. L., Case, L. E., Schiffmann, R., Hirano, M., Kishnani, P. S. <strong>Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: a clinical practice resource.</strong> Molec. Genet. Metab. 138: 107525, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36796138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36796138</a>] [<a href="https://doi.org/10.1016/j.ymgme.2023.107525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36796138">Koch et al. (2023)</a> discussed a multidisciplinary approach to the varied manifestations of APBD. Neurologic management included initial EMG/NCV with repeat longitudinal testing if needed, and MRI of the brain and spinal cord with repeat imaging every 2 to 5 years. Neurogenic bladder was recommended to be managed by a urologist. Dysautonomia should be monitored symptomatically. A comprehensive cardiac evaluation should be done at the time of diagnosis, followed by long-term care with a cardiologist. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36796138" 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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<div class="mim-changed mim-change"><p>The transmission pattern of APBD in the families reported by <a href="#6" class="mim-tip-reference" title="Lossos, A., Meiner, Z., Barash, V., Soffer, D., Schlesinger, I., Abramsky, O., Argov, Z., Shpitzen, S., Meiner, V. <strong>Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the tyr329ser mutation in the glycogen-branching enzyme gene.</strong> Ann. Neurol. 44: 867-872, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9851430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9851430</a>] [<a href="https://doi.org/10.1002/ana.410440604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9851430">Lossos et al. (1998)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9851430" 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></div>
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<p>In 7 Jewish patients with APBD, <a href="#6" class="mim-tip-reference" title="Lossos, A., Meiner, Z., Barash, V., Soffer, D., Schlesinger, I., Abramsky, O., Argov, Z., Shpitzen, S., Meiner, V. <strong>Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the tyr329ser mutation in the glycogen-branching enzyme gene.</strong> Ann. Neurol. 44: 867-872, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9851430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9851430</a>] [<a href="https://doi.org/10.1002/ana.410440604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9851430">Lossos et al. (1998)</a> identified homozygosity for a missense mutation in the GBE gene (Y329S; <a href="/entry/607839#0002">607839.0002</a>). Related family members who were heterozygous for the mutation had only a partial biochemical defect, thereby demonstrating dosage effect of the mutant allele consistent with simple autosomal recessive transmission. The authors noted that the same mutation had been identified in heterozygous state in a 20-year-old person with normal liver function, and in compound heterozygous state in a nonprogressive form of type IV GSD. They concluded that APBD is a variant of GSD type IV. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9851430" 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 non-Ashkenazi patient with adult polyglucosan body disease, <a href="#12" class="mim-tip-reference" title="Ziemssen, F., Sindern, E., Schroder, J. M., Shin, Y. S., Zange, J., Kilimann, M. W., Malin, J.-P., Vorgerd, M. <strong>Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.</strong> Ann. Neurol. 47: 536-540, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10762170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10762170</a>]" pmid="10762170">Ziemssen et al. (2000)</a> identified compound heterozygosity for mutations in the GBE1 gene (<a href="/entry/607839#0004">607839.0004</a> and <a href="/entry/607839#0007">607839.0007</a>) that had previously been identified in patients with GSD type IV. The patient presented at age 46 years with gait disturbance, urinary urge incontinence, and hearing loss. She also had spastic tetraparesis, extensor plantar responses, and impaired sensation in the legs. Sural nerve biopsy showed polyglucosan bodies, and leukocyte GBE activity was 20% of normal. Each of her 2 clinically unaffected daughters carried one of the mutations and showed intermediate levels of GBE activity (80% of normal). The findings confirmed that APBD and GSD IV are allelic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10762170" 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 46 APBD patients, mostly of Ashkenazi Jewish descent, <a href="#7" class="mim-tip-reference" title="Mochel, F., Schiffmann, R., Steenweg, M. E., Akman, H. O., Wallace, M., Sedel, F., Laforet, P., Levy, R., Powers, J. M., Demeret, S., Maisonobe, T., Froissart, R., and 12 others. <strong>Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings.</strong> Ann. Neurol. 72: 433-441, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23034915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23034915</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23034915[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.23598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23034915">Mochel et al. (2012)</a> identified mutations in the GBE1 gene. The most common mutation was Y329S, found in the homozygous state in 22 patients and in the heterozygous state in 13 patients. Eight additional patients were compound heterozygous for Y329S and another pathogenic mutation; 3 related individuals were homozygous for an E242Q mutation. <a href="#2" class="mim-tip-reference" title="Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A. <strong>Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.</strong> JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25665141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25665141</a>] [<a href="https://doi.org/10.1001/jamaneurol.2014.4496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25665141">Akman et al. (2015)</a> performed follow-up of some of the heterozygous patients reported by <a href="#7" class="mim-tip-reference" title="Mochel, F., Schiffmann, R., Steenweg, M. E., Akman, H. O., Wallace, M., Sedel, F., Laforet, P., Levy, R., Powers, J. M., Demeret, S., Maisonobe, T., Froissart, R., and 12 others. <strong>Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings.</strong> Ann. Neurol. 72: 433-441, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23034915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23034915</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23034915[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.23598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23034915">Mochel et al. (2012)</a>. In a cohort of 16 patients of Ashkenazi Jewish descent who were initially found to be heterozygous for the Y329S mutation, <a href="#2" class="mim-tip-reference" title="Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A. <strong>Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.</strong> JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25665141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25665141</a>] [<a href="https://doi.org/10.1001/jamaneurol.2014.4496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25665141">Akman et al. (2015)</a> found that 3 were compound heterozygous for Y329S and an L224P (<a href="/entry/607839#0003">607839.0003</a>) substitution. The remaining 16 heterozygous patients carried a complex deep intronic del/ins mutation in intron 15 (<a href="/entry/607839#0020">607839.0020</a>) that resulted in a truncated protein. Haplotype analysis suggested a founder effect for the deep intronic mutation. The mean GBE activity in compound heterozygotes was 8% of normal compared to 18% of normal in Y329S homozygotes, but there was no obvious phenotypic difference. <a href="#2" class="mim-tip-reference" title="Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A. <strong>Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.</strong> JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25665141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25665141</a>] [<a href="https://doi.org/10.1001/jamaneurol.2014.4496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25665141">Akman et al. (2015)</a> noted that the deep intronic mutation was missed by whole-genome sequencing, emphasizing potential pitfalls in genetic diagnostics using this method. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23034915+25665141" 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="#1" class="mim-tip-reference" title="Akman, H. O., Emmanuele, V., Kurt, Y. G., Kurt, B., Sheiko, T., DiMauro, S., Craigen, W. J. <strong>A novel mouse model that recapitulates adult-onset glycogenosis type 4.</strong> Hum. Molec. Genet. 24: 6801-6810, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26385640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26385640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26385640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26385640">Akman et al. (2015)</a> found that transgenic mice homozygous for the GBE1 Y329S hypomorphic allele (<a href="/entry/607839#0002">607839.0002</a>) developed muscle weakness, late-onset spastic paraplegia affecting the hindlimbs, and premature death. Pathologic examination showed progressive glycogen and polyglucosan body accumulation in various organs. The phenotype was reminiscent of APBD in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26385640" 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>REFERENCES</strong>
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<a id="Akman2015" class="mim-anchor"></a>
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Akman, H. O., Emmanuele, V., Kurt, Y. G., Kurt, B., Sheiko, T., DiMauro, S., Craigen, W. J.
|
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<strong>A novel mouse model that recapitulates adult-onset glycogenosis type 4.</strong>
|
|
Hum. Molec. Genet. 24: 6801-6810, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26385640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26385640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26385640[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=26385640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddv385" target="_blank">Full Text</a>]
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Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A.
|
|
<strong>Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.</strong>
|
|
JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25665141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25665141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25665141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/jamaneurol.2014.4496" target="_blank">Full Text</a>]
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<a id="Bruno1993" class="mim-anchor"></a>
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Bruno, C., Servidei, S., Shanske, S., Karpati, G., Carpenter, S., McKee, D., Barohn, R. J., Hirano, M., Rifai, Z., DiMauro, S.
|
|
<strong>Glycogen branching enzyme deficiency in adult polyglucosan body disease.</strong>
|
|
Ann. Neurol. 33: 88-93, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8494336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8494336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8494336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410330114" target="_blank">Full Text</a>]
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<a id="Koch2023" class="mim-anchor"></a>
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Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., Kang, P. B., Landstrom, A. P., Akman, H. O., Burrow, T. A., Orthmann-Murphy, J. L., Goldman, D. S., Pendyal, S., El-Gharbawy, A. H., Austin, S. L., Case, L. E., Schiffmann, R., Hirano, M., Kishnani, P. S.
|
|
<strong>Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: a clinical practice resource.</strong>
|
|
Molec. Genet. Metab. 138: 107525, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36796138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36796138</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36796138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2023.107525" target="_blank">Full Text</a>]
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<a id="Lossos1991" class="mim-anchor"></a>
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Lossos, A., Barash, V., Soffer, D., Argov, Z., Gomori, M., Ben-Nariah, Z., Abramsky, O., Steiner, I.
|
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<strong>Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients.</strong>
|
|
Ann. Neurol. 30: 655-662, 1991.
|
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|
|
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1763891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1763891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1763891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410300505" target="_blank">Full Text</a>]
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<a id="Lossos1998" class="mim-anchor"></a>
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Lossos, A., Meiner, Z., Barash, V., Soffer, D., Schlesinger, I., Abramsky, O., Argov, Z., Shpitzen, S., Meiner, V.
|
|
<strong>Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the tyr329ser mutation in the glycogen-branching enzyme gene.</strong>
|
|
Ann. Neurol. 44: 867-872, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9851430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9851430</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9851430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410440604" target="_blank">Full Text</a>]
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<a id="Mochel2012" class="mim-anchor"></a>
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Mochel, F., Schiffmann, R., Steenweg, M. E., Akman, H. O., Wallace, M., Sedel, F., Laforet, P., Levy, R., Powers, J. M., Demeret, S., Maisonobe, T., Froissart, R., and 12 others.
|
|
<strong>Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings.</strong>
|
|
Ann. Neurol. 72: 433-441, 2012.
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23034915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23034915</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23034915[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=23034915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.23598" target="_blank">Full Text</a>]
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<a id="Peress1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Peress, N. S., DiMauro, S., Roxburgh, V. A.
|
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<strong>Adult polysaccharidosis: clinicopathological, ultrastructural and biochemical features.</strong>
|
|
Arch. Neurol. 36: 840-845, 1979.
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/508148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">508148</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=508148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1979.00500490054009" target="_blank">Full Text</a>]
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<a id="Rifai1994" class="mim-anchor"></a>
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Rifai, Z., Klitzke, M., Tawil, R., Kazee, A. M., Shanske, S., DiMauro, S., Griggs, R. C.
|
|
<strong>Dementia of adult polyglucosan body disease: evidence of cortical and subcortical dysfunction.</strong>
|
|
Arch. Neurol. 51: 90-94, 1994.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8274116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8274116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8274116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1994.00540130124021" target="_blank">Full Text</a>]
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Robitaille, Y., Carpenter, S., Karpati, G., DiMauro, S.
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<strong>A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing.</strong>
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Brain 103: 315-336, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6249438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6249438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6249438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/103.2.315" target="_blank">Full Text</a>]
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Suzuki, K., David, E., Kutschman, B.
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<strong>Presenile dementia with 'Lafora-like' intraneuronal inclusions.</strong>
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Arch. Neurol. 25: 69-79, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4111956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4111956</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4111956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1971.00490010079011" target="_blank">Full Text</a>]
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Ziemssen, F., Sindern, E., Schroder, J. M., Shin, Y. S., Zange, J., Kilimann, M. W., Malin, J.-P., Vorgerd, M.
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<strong>Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.</strong>
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Ann. Neurol. 47: 536-540, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10762170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10762170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10762170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hilary J. Vernon - updated : 04/25/2023
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Cassandra L. Kniffin - updated : 5/2/2016<br>Cassandra L. Kniffin - updated : 4/7/2016<br>Cassandra L. Kniffin - updated : 7/11/2003<br>Cassandra L. Kniffin - reorganized : 6/10/2003
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Victor A. McKusick : 6/4/1986
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carol : 04/27/2023<br>carol : 04/25/2023<br>carol : 01/08/2018<br>alopez : 08/12/2016<br>carol : 05/02/2016<br>ckniffin : 5/2/2016<br>carol : 4/11/2016<br>ckniffin : 4/7/2016<br>carol : 1/26/2015<br>ckniffin : 1/21/2015<br>terry : 11/15/2006<br>carol : 7/14/2003<br>ckniffin : 7/11/2003<br>carol : 6/10/2003<br>ckniffin : 5/30/2003<br>mimadm : 4/8/1994<br>carol : 4/1/1994<br>carol : 2/24/1993<br>supermim : 3/17/1992<br>carol : 12/11/1991<br>supermim : 3/20/1990
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<h3>
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POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM; APBN
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD
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<strong>SNOMEDCT:</strong> 721099001;
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<strong>ORPHA:</strong> 206583, 367;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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<th>
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Phenotype
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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3p12.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Polyglucosan body disease, adult form
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</span>
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</td>
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<td>
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<span class="mim-font">
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263570
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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<td>
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<span class="mim-font">
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GBE1
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</span>
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</td>
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<td>
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<span class="mim-font">
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607839
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because adult polyglucosan body neuropathy (APBN) is caused by homozygous or compound heterozygous mutation in the glycogen branching enzyme gene (GBE1; 607839) on chromosome 3p12.</p><p>Mutation in the GBE1 gene also causes type IV glycogen storage disease (GSD IV; 232500), an early childhood disorder with systemic manifestations.</p>
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<h4>
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Adult polyglucosan body neuropathy (APBN) is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of the disorder is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes (summary by Lossos et al., 1998). </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Robitaille et al. (1980) reported 4 patients with a clinically and histopathologically unusual disorder. Two of them were sibs; in Case 4, the authors stated that 'she is the sister of Case 3.' Curiously, the sex in Case 3 was not given explicitly or implicitly. The clinical manifestations were those of progressive lower and upper motor neuron deficits, marked sensory loss in the legs, neurogenic bladder, and, in 2 of the 4, dementia. Autopsy in 2 showed a profusion of microscopic bodies resembling corpora amylacea or Lafora bodies, but restricted to processes of neurons and astrocytes, rather than being perikaryotic. Similar but especially large bodies were seen within axons of sural nerves taken at biopsy from the other 2 patients. In addition to Lafora disease, polyglucosan bodies occur in type IV glycogenosis, in the 'normal' course of aging, in rats rendered diabetic by alloxan, and in a form of amyotrophic lateral sclerosis (205250). Cases similar to those of Robitaille et al. (1980) were reported by Peress et al. (1979) and Suzuki et al. (1971). </p><p>Lossos et al. (1991) described 2 unrelated patients diagnosed by sural nerve biopsy. Both were offspring of consanguineous marriages. They presented clinically with late-onset pyramidal tetraparesis, micturition difficulties, peripheral neuropathy, and mild cognitive impairment. Magnetic resonance imaging showed extensive white matter abnormalities in both. Lossos et al. (1991) found that branching enzyme activity in the polymorphonuclear leukocytes of the patients was about 15% of control values, whereas their children displayed values of 50 to 60%, consistent with heterozygous state of an autosomal recessive disorder. </p><p>Bruno et al. (1993) analyzed branching enzyme activity in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi-Jewish patients with adult polyglucosan body disease and from 1 African American patient and 3 Caucasian patients with the same clinical and pathologic features. One patient was a 66-year-old woman with progressive gait disturbance for 13 years and urinary frequency and mild urgency incontinence for 5 years. She had signs of peripheral neuropathy. A brother died with the diagnosis of multiple sclerosis, but autopsy revealed adult polyglucosan body disease with marked central and peripheral nerve system involvement. A 46-year-old French Canadian woman had progressive gait disturbance and urinary incontinence over an 8-year period. Branching enzyme activity was normal in muscle specimens from all patients. The activity was markedly decreased in both leukocytes and peripheral nerve specimens of the 2 Jewish patients, and normal in nerve tissue and leukocytes from all non-Jewish patients. Bruno et al. (1993) concluded that there is a deficiency of branching enzyme in a subgroup of patients with APBD, in their experience of only Ashkenazi Jewish patients, and that APBD has more than one biochemical basis. Since the enzyme levels were normal in muscle, even in the Jewish patients, the defect is tissue-specific. </p><p>Rifai et al. (1994) reported the case of a 56-year-old man who presented with lower-limb stiffness and weakness that had progressed for 15 years. They found that he had a dementia that affected cortical and subcortical functions and that the cognitive deficits correlated with MRI findings of cortical atrophy and white matter abnormalities. </p><p>Lossos et al. (1998) reported 7 patients with APBD from 5 unrelated Jewish families: 4 were of Ashkenazi origin and 1 descended from both Ashkenazi and Sephardi ancestors. All patients manifested signs of CNS and PNS involvement, including gait abnormalities, micturition problems, paresthesias, and cognitive impairment. Brain MRI showed white matter abnormalities, and sural nerve biopsies showed intraaxonal polyglucosan bodies. None of the patients had cardiomyopathy or liver dysfunction. Leukocyte GBE activity was undetectable in all 7 patients and was reduced to about 50% in their tested children. </p><p>Mochel et al. (2012) reviewed the clinical features of 50 patients from 47 families with APBD confirmed by genetic analysis or GBE1 enzyme deficiency (less than 25% of controls). Most of the patients (73%) were of Ashkenazi Jewish descent, although patients of Latin American, Pacific Islander, Caucasian, and Cambodian background were also identified. Almost all patients developed symptoms after age 40, most commonly bladder dysfunction. Impotence was also a common complaint among men. Gait difficulties due to spastic paraplegia were the second most common problem, and about 50% of patients lost ambulation in the mid-sixties. Most patients (94%) had loss of vibration sense in the lower limbs associated with an axonal sensorimotor polyneuropathy with reduced compound motor action potentials. Sural nerve biopsy showed abundant intraaxonal polyglucosan bodies. Other variable common features included spasticity in the upper limbs (12%), saccadic pursuit (39%), slow saccades (20%), orthostatic hypotension (31%), and bradykinesia (14%). Brain and spinal imaging showed medullary and spinal atrophy, often with enlarged ventricles, cerebellar atrophy, thin corpus callosum, and periventricular and brainstem white matter lesions. Almost half of patients had mild attention and memory deficits. Overall, the patients had a median survival of 70 years, which is 8 years less than the general population. </p><p>Koch et al. (2023) described clinical features of APBD in a review and consensus paper. Neurogenic bladder was the typical initial manifestation with a median onset of 15 years of age, with difficulty walking beginning at an average age of 53 years and progression to wheelchair dependence at a median age of 64 years. Other manifestations included sexual dysfunction; abnormal eye movements including saccadic pursuit; ataxia; dysautonomia; and bradykinesia. Cognitive decline was seen in 50% of patients. </p>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Koch et al. (2023) discussed a multidisciplinary approach to the varied manifestations of APBD. Neurologic management included initial EMG/NCV with repeat longitudinal testing if needed, and MRI of the brain and spinal cord with repeat imaging every 2 to 5 years. Neurogenic bladder was recommended to be managed by a urologist. Dysautonomia should be monitored symptomatically. A comprehensive cardiac evaluation should be done at the time of diagnosis, followed by long-term care with a cardiologist. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of APBD in the families reported by Lossos et al. (1998) was consistent with autosomal recessive inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 7 Jewish patients with APBD, Lossos et al. (1998) identified homozygosity for a missense mutation in the GBE gene (Y329S; 607839.0002). Related family members who were heterozygous for the mutation had only a partial biochemical defect, thereby demonstrating dosage effect of the mutant allele consistent with simple autosomal recessive transmission. The authors noted that the same mutation had been identified in heterozygous state in a 20-year-old person with normal liver function, and in compound heterozygous state in a nonprogressive form of type IV GSD. They concluded that APBD is a variant of GSD type IV. </p><p>In a non-Ashkenazi patient with adult polyglucosan body disease, Ziemssen et al. (2000) identified compound heterozygosity for mutations in the GBE1 gene (607839.0004 and 607839.0007) that had previously been identified in patients with GSD type IV. The patient presented at age 46 years with gait disturbance, urinary urge incontinence, and hearing loss. She also had spastic tetraparesis, extensor plantar responses, and impaired sensation in the legs. Sural nerve biopsy showed polyglucosan bodies, and leukocyte GBE activity was 20% of normal. Each of her 2 clinically unaffected daughters carried one of the mutations and showed intermediate levels of GBE activity (80% of normal). The findings confirmed that APBD and GSD IV are allelic disorders. </p><p>In 46 APBD patients, mostly of Ashkenazi Jewish descent, Mochel et al. (2012) identified mutations in the GBE1 gene. The most common mutation was Y329S, found in the homozygous state in 22 patients and in the heterozygous state in 13 patients. Eight additional patients were compound heterozygous for Y329S and another pathogenic mutation; 3 related individuals were homozygous for an E242Q mutation. Akman et al. (2015) performed follow-up of some of the heterozygous patients reported by Mochel et al. (2012). In a cohort of 16 patients of Ashkenazi Jewish descent who were initially found to be heterozygous for the Y329S mutation, Akman et al. (2015) found that 3 were compound heterozygous for Y329S and an L224P (607839.0003) substitution. The remaining 16 heterozygous patients carried a complex deep intronic del/ins mutation in intron 15 (607839.0020) that resulted in a truncated protein. Haplotype analysis suggested a founder effect for the deep intronic mutation. The mean GBE activity in compound heterozygotes was 8% of normal compared to 18% of normal in Y329S homozygotes, but there was no obvious phenotypic difference. Akman et al. (2015) noted that the deep intronic mutation was missed by whole-genome sequencing, emphasizing potential pitfalls in genetic diagnostics using this method. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Akman et al. (2015) found that transgenic mice homozygous for the GBE1 Y329S hypomorphic allele (607839.0002) developed muscle weakness, late-onset spastic paraplegia affecting the hindlimbs, and premature death. Pathologic examination showed progressive glycogen and polyglucosan body accumulation in various organs. The phenotype was reminiscent of APBD in humans. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Akman, H. O., Emmanuele, V., Kurt, Y. G., Kurt, B., Sheiko, T., DiMauro, S., Craigen, W. J.
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<strong>A novel mouse model that recapitulates adult-onset glycogenosis type 4.</strong>
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Hum. Molec. Genet. 24: 6801-6810, 2015.
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[PubMed: 26385640]
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[Full Text: https://doi.org/10.1093/hmg/ddv385]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A.
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<strong>Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.</strong>
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JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015.
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[PubMed: 25665141]
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[Full Text: https://doi.org/10.1001/jamaneurol.2014.4496]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bruno, C., Servidei, S., Shanske, S., Karpati, G., Carpenter, S., McKee, D., Barohn, R. J., Hirano, M., Rifai, Z., DiMauro, S.
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<strong>Glycogen branching enzyme deficiency in adult polyglucosan body disease.</strong>
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Ann. Neurol. 33: 88-93, 1993.
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[PubMed: 8494336]
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[Full Text: https://doi.org/10.1002/ana.410330114]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., Kang, P. B., Landstrom, A. P., Akman, H. O., Burrow, T. A., Orthmann-Murphy, J. L., Goldman, D. S., Pendyal, S., El-Gharbawy, A. H., Austin, S. L., Case, L. E., Schiffmann, R., Hirano, M., Kishnani, P. S.
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<strong>Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: a clinical practice resource.</strong>
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Molec. Genet. Metab. 138: 107525, 2023.
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[PubMed: 36796138]
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[Full Text: https://doi.org/10.1016/j.ymgme.2023.107525]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lossos, A., Barash, V., Soffer, D., Argov, Z., Gomori, M., Ben-Nariah, Z., Abramsky, O., Steiner, I.
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<strong>Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients.</strong>
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Ann. Neurol. 30: 655-662, 1991.
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[PubMed: 1763891]
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[Full Text: https://doi.org/10.1002/ana.410300505]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lossos, A., Meiner, Z., Barash, V., Soffer, D., Schlesinger, I., Abramsky, O., Argov, Z., Shpitzen, S., Meiner, V.
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<strong>Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the tyr329ser mutation in the glycogen-branching enzyme gene.</strong>
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Ann. Neurol. 44: 867-872, 1998.
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[PubMed: 9851430]
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[Full Text: https://doi.org/10.1002/ana.410440604]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mochel, F., Schiffmann, R., Steenweg, M. E., Akman, H. O., Wallace, M., Sedel, F., Laforet, P., Levy, R., Powers, J. M., Demeret, S., Maisonobe, T., Froissart, R., and 12 others.
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<strong>Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings.</strong>
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Ann. Neurol. 72: 433-441, 2012.
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[PubMed: 23034915]
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[Full Text: https://doi.org/10.1002/ana.23598]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Peress, N. S., DiMauro, S., Roxburgh, V. A.
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<strong>Adult polysaccharidosis: clinicopathological, ultrastructural and biochemical features.</strong>
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Arch. Neurol. 36: 840-845, 1979.
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[PubMed: 508148]
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[Full Text: https://doi.org/10.1001/archneur.1979.00500490054009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rifai, Z., Klitzke, M., Tawil, R., Kazee, A. M., Shanske, S., DiMauro, S., Griggs, R. C.
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<strong>Dementia of adult polyglucosan body disease: evidence of cortical and subcortical dysfunction.</strong>
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Arch. Neurol. 51: 90-94, 1994.
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[PubMed: 8274116]
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[Full Text: https://doi.org/10.1001/archneur.1994.00540130124021]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Robitaille, Y., Carpenter, S., Karpati, G., DiMauro, S.
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<strong>A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing.</strong>
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Brain 103: 315-336, 1980.
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[PubMed: 6249438]
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[Full Text: https://doi.org/10.1093/brain/103.2.315]
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Suzuki, K., David, E., Kutschman, B.
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<strong>Presenile dementia with 'Lafora-like' intraneuronal inclusions.</strong>
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Arch. Neurol. 25: 69-79, 1971.
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[PubMed: 4111956]
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[Full Text: https://doi.org/10.1001/archneur.1971.00490010079011]
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Ziemssen, F., Sindern, E., Schroder, J. M., Shin, Y. S., Zange, J., Kilimann, M. W., Malin, J.-P., Vorgerd, M.
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<strong>Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.</strong>
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Ann. Neurol. 47: 536-540, 2000.
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[PubMed: 10762170]
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Hilary J. Vernon - updated : 04/25/2023<br>Cassandra L. Kniffin - updated : 5/2/2016<br>Cassandra L. Kniffin - updated : 4/7/2016<br>Cassandra L. Kniffin - updated : 7/11/2003<br>Cassandra L. Kniffin - reorganized : 6/10/2003
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Victor A. McKusick : 6/4/1986
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