4472 lines
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Entry
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- #162500 - NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
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- OMIM
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<span class="h4">#162500</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/162500"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</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="#diagnosis">Diagnosis</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="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES" 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="https://decipher.sanger.ac.uk/syndrome/31" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=192&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1392/" 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/3369" 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/hereditary-neuropathy-with-liability-to-pressure-palsies" 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=162500[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="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=640" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060843" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/162500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=001150,001491" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:162500" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</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>
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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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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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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> 230558006<br />
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<strong>ORPHA:</strong> 640<br />
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<strong>DO:</strong> 0060843<br />
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">ICD+</a>
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</div>
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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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162500
|
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</span>
|
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</span>
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</div>
|
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
|
<span class="mim-font">
|
|
|
|
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
|
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</span>
|
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</h3>
|
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</div>
|
|
<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">
|
|
POLYNEUROPATHY, FAMILIAL RECURRENT<br />
|
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TOMACULOUS NEUROPATHY
|
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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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<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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Location
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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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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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<a href="/geneMap/17/244?start=-3&limit=10&highlight=244">
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17p12
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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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Neuropathy, recurrent, with pressure palsies
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/162500"> 162500 </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 dominant">AD</abbr>
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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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PMP22
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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/601097"> 601097 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/162500" 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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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/162500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/162500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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 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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<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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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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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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<span class="h5 mim-font">
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<strong> NEUROLOGIC </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> Peripheral Nervous System </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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- Peroneal muscle weakness, transient, recurrent due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834181&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834181</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011727" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011727</a>]</span><br /> -
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Radial, ulnar, and median nerve muscles may be affected <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834182</a>]</span><br /> -
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Vocal cord paralysis has been reported <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834183&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834183</a>]</span><br /> -
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Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
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Tomacula (sausage-shaped swellings of the myelin sheath) on nerve biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834184&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834184</a>]</span><br /> -
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Segmental demyelination/remyelination on nerve biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843165</a>]</span><br /> -
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Decreased motor nerve conduction velocities (NCV) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858729&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858729</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003431</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003431</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">
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<strong> MISCELLANEOUS </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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- Onset in first and second decades<br /> -
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Precipitated by mechanical compression or pressure on nerve<br /> -
|
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Allelic disorder to Charcot-Marie-Tooth disease type 1A (<a href="/entry/118220">118220</a>)<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> MOLECULAR BASIS </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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- Caused by mutation in the gene encoding peripheral myelin protein-22 (PMP22, <a href="/entry/601097#0004">601097.0004</a>)<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 class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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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="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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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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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because hereditary neuropathy with liability to pressure palsies (HNPP) can be caused by deletion of the gene encoding peripheral myelin protein-22 (PMP22; <a href="/entry/601097">601097</a>); duplication of PMP22 causes Charcot-Marie-Tooth disease type 1A (CMT1A; <a href="/entry/118220">118220</a>). Point mutation in PMP22 may result in HNPP or CMT1A.</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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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<div class="mim-changed mim-change"><p>Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by episodic mononeuropathies at typical sites of nerve compression, most frequently affecting the peroneal nerve at the fibular head, the ulnar nerve at the elbow, the brachial plexus, the radial nerve at the spiral groove, and the median nerve at the wrist. Patients clinically have transient focal episodes of weakness and sensory loss lasting minutes to months. Over half of patients recover completely, but deficits may persist (<a href="#27" class="mim-tip-reference" title="Kleopa, K. A., Georgiou, D.-M., Nicolaou, P., Koutsou, P., Papathanasiou, E., Kyriakides, T., Christodoulou, K. <strong>A novel PMP22 mutation ser22phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.</strong> Neurogenetics 5: 171-175, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15205993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15205993</a>] [<a href="https://doi.org/10.1007/s10048-004-0184-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15205993">Kleopa et al., 2004</a>, <a href="#33" class="mim-tip-reference" title="Li, J., Ghandour, K., Radovanovic, D., Shy, R. R., Krajewski, K. M., Shy, M. E., Nicholson, G. A. <strong>Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.</strong> Arch. Neurol. 64: 974-978, 2007. Note: Erratum: Arch. Neurol. 64: 1547 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17620487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17620487</a>] [<a href="https://doi.org/10.1001/archneur.64.7.974" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17620487">Li et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17620487+15205993" 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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<br />
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>This disorder may have been described first by <a href="#11" class="mim-tip-reference" title="De Jong, J. G. Y. <strong>Over families met hereditarie disposite tot het optreten van neuritiden, gecorreleard met migraine.</strong> Monatsschr. Psychiatr. Neurol. 50: 60-76, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20271590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20271590</a>]" pmid="20271590">De Jong (1947)</a> who reported a family in which 1 man and 4 women in 3 generations had recurrent peroneal neuropathy after digging potatoes in a kneeling position. Families were reported by <a href="#10" class="mim-tip-reference" title="Davies, D. M. <strong>Recurrent peripheral-nerve palsies in a family.</strong> Lancet 264: 266-268, 1954. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13184660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13184660</a>] [<a href="https://doi.org/10.1016/s0140-6736(54)90193-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13184660">Davies (1954)</a> and by <a href="#14" class="mim-tip-reference" title="Earl, C. J., Fullerton, P. M., Wakefield, G. S., Schretta, H. S. <strong>Hereditary neuropathy, with liability to pressure palsies: a clinical and electrophysiological study of four families.</strong> Quart. J. Med. 33: 481-498, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14212604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14212604</a>]" pmid="14212604">Earl et al. (1964)</a>. The latter group found that motor nerve conduction velocity (NCV) was reduced in some clinically normal family members. <a href="#52" class="mim-tip-reference" title="Staal, A., De Weerdt, C. J., Went, L. N. <strong>Hereditary compression syndrome of peripheral nerves.</strong> Neurology 15: 1008-1017, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4285163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4285163</a>] [<a href="https://doi.org/10.1212/wnl.15.11.1008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4285163">Staal et al. (1965)</a> studied a family in which members in 4 generations showed transient unilateral peroneal palsies. The neuropathy manifested itself especially after prolonged work in a kneeling position. The family, living in Holland, knew the disease as 'bulb diggers' palsy. Other nerve palsies, such as ulna, occur as well (<a href="#10" class="mim-tip-reference" title="Davies, D. M. <strong>Recurrent peripheral-nerve palsies in a family.</strong> Lancet 264: 266-268, 1954. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13184660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13184660</a>] [<a href="https://doi.org/10.1016/s0140-6736(54)90193-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13184660">Davies, 1954</a>). Females are less severely affected. In a Danish family, <a href="#47" class="mim-tip-reference" title="Roos, D., Thygesen, P. <strong>Familial recurrent polyneuropathy: a family and a survey.</strong> Brain 95: 235-248, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4347629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4347629</a>] [<a href="https://doi.org/10.1093/brain/95.2.235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4347629">Roos and Thygesen (1972)</a> observed 19 cases in 5 generations. The usual age of onset was between ages 15 and 20 years. The course of the disorder and the episodic nature of the neuropathy, which often was of mechanical provocation, suggested that it was the same disorder as that reported by <a href="#10" class="mim-tip-reference" title="Davies, D. M. <strong>Recurrent peripheral-nerve palsies in a family.</strong> Lancet 264: 266-268, 1954. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13184660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13184660</a>] [<a href="https://doi.org/10.1016/s0140-6736(54)90193-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13184660">Davies (1954)</a>, <a href="#59" class="mim-tip-reference" title="Wahle, H., Tonnis, D. <strong>Familiaere Anfaelligkeit gegenueber Druckschaedigungen peripherer Nerven.</strong> Fortschr. Neurol. Psychiatr. Grenzgeb. 26: 371-376, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13562331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13562331</a>]" pmid="13562331">Wahle and Tonnis (1958)</a>, <a href="#14" class="mim-tip-reference" title="Earl, C. J., Fullerton, P. M., Wakefield, G. S., Schretta, H. S. <strong>Hereditary neuropathy, with liability to pressure palsies: a clinical and electrophysiological study of four families.</strong> Quart. J. Med. 33: 481-498, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14212604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14212604</a>]" pmid="14212604">Earl et al. (1964)</a>, and others. <a href="#17" class="mim-tip-reference" title="Gabreels-Festen, A. A. W. M., Gabreels, F. J. M., Joosten, E. M. G., Vingerhoets, H. M., Renier, W. O. <strong>Hereditary neuropathy with liability to pressure palsies in childhood.</strong> Neuropediatrics 23: 138-143, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1322507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1322507</a>] [<a href="https://doi.org/10.1055/s-2008-1071329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1322507">Gabreels-Festen et al. (1992)</a> called attention to atypical presentation of this disorder. Manifestations included pes cavus, scoliosis, and deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20271590+13184660+13562331+14212604+4347629+1322507+4285163" 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="#36" class="mim-tip-reference" title="Madrid, R., Bradley, W. G. <strong>The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy): studies on the formation of the abnormal myelin sheath.</strong> J. Neurol. Sci. 25: 415-448, 1975."None>Madrid and Bradley (1975)</a> reviewed the pathology, which is distinguished by the presence of sausage-shaped swellings of the myelin sheath, from which the term tomaculous neuropathy (Latin: tomaculum = sausage) was derived. <a href="#43" class="mim-tip-reference" title="Oda, K., Miura, H., Shibasaki, H., Endo, C., Kakigi, R., Kuroda, Y., Tanaka, K. <strong>Hereditary pressure-sensitive neuropathy: demonstration of 'tomacula' in motor nerve fibers.</strong> J. Neurol. Sci. 98: 139-148, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1700806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1700806</a>] [<a href="https://doi.org/10.1016/0022-510x(90)90254-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1700806">Oda et al. (1990)</a> demonstrated that the tomacula occur not only in sensory nerves but also in motor nerves. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1700806" 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="#16" class="mim-tip-reference" title="Fewings, J. D., Mukherjee, T. M., Blumbergs, P. C., Hallpike, J. F. <strong>Tomaculous neuropathy: hereditary predisposition to pressure palsies.</strong> Aust. New Zeal. J. Med. 15: 598-603, 1985. Note: Erratum: Aust. New Zeal. J. Med. 16: 108 only, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3004403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3004403</a>]" pmid="3004403">Fewings et al. (1985)</a> reported a family. <a href="#48" class="mim-tip-reference" title="Sellman, M. S., Mayer, R. F. <strong>Conduction block in hereditary neuropathy with susceptibility to pressure palsies.</strong> Muscle Nerve 10: 621-625, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477693</a>] [<a href="https://doi.org/10.1002/mus.880100706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3477693">Sellman and Mayer (1987)</a> reported conduction block in 5 nerves of 4 patients from 2 families with hereditary neuropathy with susceptibility to pressure palsies. Pathologic changes included segmental demyelination and tomaculous swellings. <a href="#4" class="mim-tip-reference" title="Barisic, N., Skarpa, D., Jusic, A., Jadro-Santel, D. <strong>Steroid responsive familial neuropathy with liability to pressure palsies.</strong> Neuropediatrics 21: 191-192, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2290479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2290479</a>]" pmid="2290479">Barisic et al. (1990)</a> described this disorder in monozygotic twin sisters and their father. Only 1 of the twins was clinically affected. She developed unilateral peroneal palsy 20 minutes following local pressure. A 25 to 70% reduction of motor and sensory conduction velocity was recorded in the clinically unaffected twin sister and in the father. Sural nerve biopsy showed 'sausage-like' formations. Cortisone was thought to be beneficial. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2290479+3004403+3477693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Gouider, R., LeGuern, E., Gugenheim, M., Tardieu, S., Maisonobe, T., Leger, J. M., Vallat, J. M., Agid, Y., Bouche, P., Brice, A. <strong>Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.</strong> Neurology 45: 2018-2023, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7501152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7501152</a>] [<a href="https://doi.org/10.1212/wnl.45.11.2018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7501152">Gouider et al. (1995)</a> found mild electrophysiologic abnormalities in all symptomatic and asymptomatic deletion carriers, even in childhood. The most consistent findings were mild increase in the distal motor latency of the median nerve at the wrist, reduced sensory velocity in the palm, and delayed distal motor latency or reduced motor velocity in the peroneal nerve. The authors found that 37.5% of the subjects had absent ankle jerks and 12.5% had global areflexia. However, even these affected subjects did not have the severe slowing or motor nerve conduction velocities that could cause confusion with Charcot-Marie-Tooth disease type 1A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7501152" 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="#49" class="mim-tip-reference" title="Sessa, M., Nemni, R., Quattrini, A., Del Carro, U., Wrabetz, L., Canal, N. <strong>Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis.</strong> J. Med. Genet. 34: 889-892, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9391880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9391880</a>] [<a href="https://doi.org/10.1136/jmg.34.11.889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9391880">Sessa et al. (1997)</a> described a father and son with a clinical presentation suggestive of HNPP but without typical tomacula on sural nerve biopsy. Molecular analysis confirmed a deletion at 17p11.2 in both patients. The father, a 45-year-old man, had acute onset of weakness and paresthesia in the right hand after sustained pressure. On examination 3 months later, motor deficit was present in the distribution of the right ulnar and median nerves as well as the right peroneal nerves. Pes cavus and hammertoes were present. The son, an 18-year-old parachutist, reported acute onset of weakness in his left shoulder after parachuting. <a href="#49" class="mim-tip-reference" title="Sessa, M., Nemni, R., Quattrini, A., Del Carro, U., Wrabetz, L., Canal, N. <strong>Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis.</strong> J. Med. Genet. 34: 889-892, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9391880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9391880</a>] [<a href="https://doi.org/10.1136/jmg.34.11.889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9391880">Sessa et al. (1997)</a> concluded that their observations supported the relevance of DNA analysis for the diagnosis of HNPP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9391880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#54" class="mim-tip-reference" title="Stogbauer, F., Young, P., Kerschensteiner, M., Ringelstein, E. B., Assmann, G., Funke, H. <strong>Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene.</strong> Muscle Nerve 21: 1199-1201, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9703447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9703447</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199809)21:9<1199::aid-mus12>3.0.co;2-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9703447">Stogbauer et al. (1998)</a> described a 29-year-old man who had had 3 episodes of painless palsy of the brachial plexus on either the right or the left side over a period of 6 years. These episodes were not preceded by strenuous use of the affected arm or by infections. Recovery had generally been excellent. Clinical examination showed no signs of generalized neuropathy. There was no pes cavus, and deep tendon reflexes were normal. Nerve conduction velocity studies showed prolonged distal motor latencies as well as prolonged motor nerve conduction velocities of the median and peroneal nerves. Sural nerve biopsy showed demyelination and remyelination, as well as focal myelin thickening (i.e., tomacula). Using intragenic polymorphisms of the PMP22 gene, <a href="#54" class="mim-tip-reference" title="Stogbauer, F., Young, P., Kerschensteiner, M., Ringelstein, E. B., Assmann, G., Funke, H. <strong>Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene.</strong> Muscle Nerve 21: 1199-1201, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9703447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9703447</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199809)21:9<1199::aid-mus12>3.0.co;2-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9703447">Stogbauer et al. (1998)</a> demonstrated that the maternal allele was lost, indicating deletion. It appeared to be a de novo deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9703447" 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>There are conditions that mimic the symptoms of carpal tunnel syndrome (CTS; <a href="/entry/115430">115430</a>) or predispose people to develop it. One such condition is HNNP, which most frequently manifests initially as a peripheral nerve entrapment, including median nerve compression at the carpal canal with delayed nerve conduction velocities. <a href="#45" class="mim-tip-reference" title="Potocki, L., Chen, K. S., Koeuth, T., Killian, J., Iannaccone, S. T., Shapira, S. K., Kashork, C. D., Spikes, A. S., Shaffer, L. G., Lupski, J. R. <strong>DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.</strong> Am. J. Hum. Genet. 64: 471-478, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9973284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9973284</a>] [<a href="https://doi.org/10.1086/302240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9973284">Potocki et al. (1999)</a> described a family with dominantly inherited CTS that was associated with the chromosome deletion in 17p12 that causes HNPP. The authors suggested that HNPP is probably underdiagnosed because it typically has episodic and transient clinical manifestations. <a href="#53" class="mim-tip-reference" title="Stockton, D. W., Meade, R. A., Netscher, D. T., Epstein, M. J., Shenaq, S. M., Shaffer, L. G., Lupski, J. R. <strong>Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.</strong> Arch. Neurol. 58: 1635-1637, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11594922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11594922</a>] [<a href="https://doi.org/10.1001/archneur.58.10.1635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11594922">Stockton et al. (2001)</a> evaluated 50 patients diagnosed with idiopathic CTS and found no instance of the chromosome 17 microdeletion that causes HNPP. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11594922+9973284" 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="Cruz-Martinez, A., Bort, S., Arpa, J., Palau, F. <strong>Hereditary neuropathy with liability to pressure palsies (HNPP) revealed after weight loss.</strong> Europ. Neurol. 37: 257-260, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9208274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9208274</a>] [<a href="https://doi.org/10.1159/000117463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9208274">Cruz-Martinez et al. (1997)</a> reported 2 young females who developed unilateral peroneal nerve palsy after a diet for fashion reasons. Both patients had no previous history of palsies. In both, the palsy developed after nocturnal sleeping. A deletion of the PMP22 gene was demonstrated. Nerve conduction studies showed abnormalities in several relatives, some of whom had had palsies. Conduction block at the fibular head was in agreement with the hypothesis that the peroneal nerve becomes more susceptible to minor injuries, perhaps as a result of the loss of subcutaneous tissue. 'Slimmer paralysis' can occur in persons with HNPP and no history of previous palsy and probably can occur occasionally in individuals without the genetic defect. Weight loss must be added to trivial trauma of attraction or pressure as a precipitating factor in the genetic disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9208274" 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="#50" class="mim-tip-reference" title="Shaibani, A., Gooch, C., Harati, Y. <strong>Moving toes and myoclonus associated with hereditary neuropathy with liability to pressure palsy (HNPP).</strong> Muscle Nerve 20: 881-883, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9179161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9179161</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199707)20:7<881::aid-mus13>3.0.co;2-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9179161">Shaibani et al. (1997)</a> reported the case of a 22-year-old male who awoke with right foot drop and numbness found to be due to HNPP by nerve conduction studies, sural nerve biopsy, and molecular genetic analysis. Two months later he developed involuntary flexion/extension movements of the right toes with associated intermittent dystonic flexion of the right foot. Over the next 2 months these movements spread to the left foot and hand, and myoclonus of the left trapezius and rhomboid muscles appeared. This was thought to be the first case report of moving toes syndrome and segmental myoclonus in association with HNPP. <a href="#50" class="mim-tip-reference" title="Shaibani, A., Gooch, C., Harati, Y. <strong>Moving toes and myoclonus associated with hereditary neuropathy with liability to pressure palsy (HNPP).</strong> Muscle Nerve 20: 881-883, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9179161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9179161</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199707)20:7<881::aid-mus13>3.0.co;2-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9179161">Shaibani et al. (1997)</a> concluded that the temporal and topographic patterns of spread of the abnormal movements suggested a central mechanism probably induced by peripheral pathology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9179161" 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="#15" class="mim-tip-reference" title="Felice, K. J., Leicher, C. R., DiMario, F. J., Jr. <strong>Hereditary neuropathy with liability to pressure palsies in children.</strong> Pediat. Neurol. 21: 818-821, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10593673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10593673</a>] [<a href="https://doi.org/10.1016/s0887-8994(99)00086-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10593673">Felice et al. (1999)</a> described the cases of 2 children with liability to pressure palsies: a 13-year-old girl with a droopy left shoulder that was initially attributed to scoliosis; and a 16-year-old male who presented with right biceps brachii atrophy that was first observed by his pediatrician during a routine physical examination. Nerve conduction studies in both children showed evidence of superimposed diffuse demyelinating polyneuropathy. The girl had frequently carried a heavy backpack on both shoulders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10593673" 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="#44" class="mim-tip-reference" title="Ohkoshi, N., Kohno, Y., Hayashi, A., Wada, T., Shoji, S. <strong>Acute vocal cord paralysis in hereditary neuropathy with liability to pressure palsies.</strong> Neurology 56: 1415 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11376203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11376203</a>] [<a href="https://doi.org/10.1212/wnl.56.10.1415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11376203">Ohkoshi et al. (2001)</a> reported a 19-year-old woman who presented with 2 episodes of hand drop and a subsequent episode of aphonia and hoarseness after sleeping in the prone position. Molecular analysis showed a common deletion on 17p11.2, confirming a diagnosis of HNPP. Laryngoscopic findings showed right vocal cord paresis which resolved after 6 weeks. The authors noted that vocal cord paralysis had not previously been reported in patients with HNPP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11376203" 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="#29" class="mim-tip-reference" title="Korn-Lubetzki, I., Argov, Z., Raas-Rothschild, A., Wirguin, I., Steiner, I. <strong>Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.</strong> Am. J. Med. Genet. 113: 275-278, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12439896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12439896</a>] [<a href="https://doi.org/10.1002/ajmg.10725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12439896">Korn-Lubetzki et al. (2002)</a> described a Jewish Kurdish family in which a father and 2 daughters were diagnosed with inflammatory demyelinating polyneuropathy (<a href="/entry/139393">139393</a>) within a period of 10 years. DNA analysis identified the deletion on chromosome 17 that is typical of HNPP. The authors suggested that screening for the HNPP deletion in patients with atypical, recurrent, or familial inflammatory demyelinating polyneuropathy may be warranted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12439896" 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="#23" class="mim-tip-reference" title="Hardon, W. J., van Alfen, N., Zwarts, M. J., Rotteveel, J. J. <strong>Hereditary neuropathy with liability to pressure palsies in a toddler.</strong> Neurology 59: 2008 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12499508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12499508</a>] [<a href="https://doi.org/10.1212/01.wnl.0000038440.62977.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12499508">Hardon et al. (2002)</a> described a previously healthy 2-year-old boy who presented with radial nerve palsy due to HNPP. He had developed acute severe weakness of his right hand, with no other symptoms. He had the habit of sleeping with his right arm hanging through the bars of his bed. Neurologic examination revealed a paralysis of the wrist and digit extensors and of the abductor pollicis longus muscle on the right. Neurophysiologic study showed a lower right radial nerve compound motor action potential with a normal nerve conduction velocity. The mother experienced numbness in digits I through III of her left hand and was found to have prolonged motor and sensory distal latencies and moderate slowing of the NCVs of the left median nerve compatible with carpal tunnel syndrome. Both mother and son were shown to have the same deletion in the 17p11.2 region. The boy's radial nerve palsy completely recovered in 2 months. <a href="#23" class="mim-tip-reference" title="Hardon, W. J., van Alfen, N., Zwarts, M. J., Rotteveel, J. J. <strong>Hereditary neuropathy with liability to pressure palsies in a toddler.</strong> Neurology 59: 2008 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12499508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12499508</a>] [<a href="https://doi.org/10.1212/01.wnl.0000038440.62977.5c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12499508">Hardon et al. (2002)</a> concluded that even in very young children with a negative family history but otherwise typical compressive nerve palsy, the possibility of HNPP needs to be considered. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12499508" 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="#26" class="mim-tip-reference" title="Kalfakis, N., Panas, M., Karadima, G., Floroskufi, P., Kokolakis, N., Vassilopoulos, D. <strong>Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment.</strong> Neurology 59: 1470-1471, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12427913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12427913</a>] [<a href="https://doi.org/10.1212/01.wnl.0000032505.45389.94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12427913">Kalfakis et al. (2002)</a> reported a 37-year-old patient with non-Hodgkin lymphoma who was treated with a total of 4 mg vincristine and developed a tetraparesis, inability to walk, and areflexia. Genetic analysis identified the characteristic deletion of the PMP22 gene found in HNPP. <a href="#26" class="mim-tip-reference" title="Kalfakis, N., Panas, M., Karadima, G., Floroskufi, P., Kokolakis, N., Vassilopoulos, D. <strong>Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment.</strong> Neurology 59: 1470-1471, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12427913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12427913</a>] [<a href="https://doi.org/10.1212/01.wnl.0000032505.45389.94" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12427913">Kalfakis et al. (2002)</a> suggested that diagnostic investigations for hereditary neuropathies, including HNPP, should be performed before administration of vincristine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12427913" 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>Studies of patients with HNPP show accentuated distal slowing along with nonuniform conduction abnormalities at segments liable to compression, suggesting a distal myelinopathy as an underlying pathophysiologic mechanism. <a href="#34" class="mim-tip-reference" title="Li, J., Krajewski, K., Shy, M. E., Lewis, R. A. <strong>Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name.</strong> Neurology 58: 1769-1773, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12084875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12084875</a>] [<a href="https://doi.org/10.1212/wnl.58.12.1769" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12084875">Li et al. (2002)</a> evaluated 12 patients with HNPP by standard nerve conduction studies and by conduction to more proximal muscles in the arm and leg. Three CMT1A patients and 6 healthy subjects were also evaluated as controls. <a href="#34" class="mim-tip-reference" title="Li, J., Krajewski, K., Shy, M. E., Lewis, R. A. <strong>Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name.</strong> Neurology 58: 1769-1773, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12084875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12084875</a>] [<a href="https://doi.org/10.1212/wnl.58.12.1769" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12084875">Li et al. (2002)</a> found accentuated distal slowing primarily in median and peroneal nerve segments liable to pressure palsies or repetitive trauma. However, the ulnar and tibial nerves, which are less liable to compression, had minimal changes. In addition, distal latencies to more proximal muscles in the arm and leg did not have distal slowing. <a href="#34" class="mim-tip-reference" title="Li, J., Krajewski, K., Shy, M. E., Lewis, R. A. <strong>Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name.</strong> Neurology 58: 1769-1773, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12084875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12084875</a>] [<a href="https://doi.org/10.1212/wnl.58.12.1769" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12084875">Li et al. (2002)</a> concluded that their findings did not support a distal myelinopathy as a determinant of the conduction abnormalities in HNPP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12084875" 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="#33" class="mim-tip-reference" title="Li, J., Ghandour, K., Radovanovic, D., Shy, R. R., Krajewski, K. M., Shy, M. E., Nicholson, G. A. <strong>Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.</strong> Arch. Neurol. 64: 974-978, 2007. Note: Erratum: Arch. Neurol. 64: 1547 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17620487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17620487</a>] [<a href="https://doi.org/10.1001/archneur.64.7.974" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17620487">Li et al. (2007)</a> reported clinical features of an Australian family with HNPP due to a frameshift mutation in the PMP22 gene (<a href="/entry/601097#0009">601097.0009</a>); the family had previously been reported by <a href="#42" class="mim-tip-reference" title="Nicholson, G. A., Valentijn, L. J., Cherryson, A. K., Kennerson, M. L., Bragg, T. L., DeKroon, R. M., Ross, D. A., Pollard, J. D., Mcleod, J. G., Bolhuis, P. A., Baas, F. <strong>A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.</strong> Nature Genet. 6: 263-266, 1994. Note: Erratum: Nature Genet. 7: 113 only, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012388</a>] [<a href="https://doi.org/10.1038/ng0394-263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012388">Nicholson et al. (1994)</a>. The mean age at onset was 15 years, and all patients reported transient episodes of focal weakness or sensory loss. Nine of 11 patients had mild neurologic abnormalities and mild sensory abnormalities specifically in the feet. Electrophysiologic studies showed a pattern similar to HNPP resulting from the classic PMP22 deletion, with accentuated distal slowing occurring at sites subject to nerve compression. Three patients older than age 65 years had clinical and electrophysiologic evidence of length-dependent axonal loss. Further studies showed a 24% reduction of PMP22 levels in myelinated axons from dermal biopsies. <a href="#33" class="mim-tip-reference" title="Li, J., Ghandour, K., Radovanovic, D., Shy, R. R., Krajewski, K. M., Shy, M. E., Nicholson, G. A. <strong>Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.</strong> Arch. Neurol. 64: 974-978, 2007. Note: Erratum: Arch. Neurol. 64: 1547 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17620487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17620487</a>] [<a href="https://doi.org/10.1001/archneur.64.7.974" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17620487">Li et al. (2007)</a> concluded that the phenotype of HNPP due to a PMP22 truncating mutation is indistinguishable from that due to the PMP22 1.5-Mb deletion. The findings indicated that a reduction in PMP22 is sufficient to induce the HNPP phenotype independent of effects from other genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17620487+8012388" 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="Aarskog, N. K., Vedeler, C. A. <strong>Real-time quantitative polymerase chain reaction: a new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.</strong> Hum. Genet. 107: 494-498, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140948</a>] [<a href="https://doi.org/10.1007/s004390000399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11140948">Aarskog and Vedeler (2000)</a> described a quantitative PCR method for detecting both duplication and deletion of the PMP22 gene in CMT1A and HNPP, respectively. Their method of real-time quantitative PCR is a sensitive, specific, and reproducible method allowing 13 patients to be diagnosed in 2 hours. It involves no radioisotopes and requires no post-PCR handling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11140948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Differential Diagnosis</em></strong></p><p>
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Although HNPP shares clinical features with neuritis with brachial predilection (NAPB; <a href="/entry/162100">162100</a>), they are considered distinct disorders (<a href="#21" class="mim-tip-reference" title="Gouider, R., LeGuern, E., Emile, J., Tardieu, S., Cabon, F., Samid, M., Weissenbach, J., Agid, Y., Bouche, P., Brice, A. <strong>Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities.</strong> Neurology 44: 2250-2252, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7991107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7991107</a>] [<a href="https://doi.org/10.1212/wnl.44.12.2250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7991107">Gouider et al., 1994</a>). <a href="#39" class="mim-tip-reference" title="Martinelli, P., Fabbri, R., Moretto, G., Gabellini, A. S., D'Alessandro, R., Rizzuto, N. <strong>Recurrent familial brachial plexus palsies as the only clinical expression of 'tomaculous' neuropathy.</strong> Europ. Neurol. 29: 61-66, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2540008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2540008</a>] [<a href="https://doi.org/10.1159/000116379" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2540008">Martinelli et al. (1989)</a> described a family in which multiple members had intermittent brachial plexus palsy with the histologic findings of tomaculous neuropathy. Patients showed reduced interpupillary distance (hypotelorism), a finding that has been reported in neuritis with brachial predilection (<a href="#2" class="mim-tip-reference" title="Airaksinen, E. M., Iivanainen, M., Karli, P., Sainio, K., Haltia, M. <strong>Hereditary recurrent brachial plexus neuropathy with dysmorphic features.</strong> Acta Neurol. Scand. 71: 309-316, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4003034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4003034</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1985.tb03205.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4003034">Airaksinen et al., 1985</a>; <a href="#25" class="mim-tip-reference" title="Jacob, J. C., Andermann, F., Roob, J. P. <strong>Heredofamilial neuritis with brachial predilection.</strong> Neurology 11: 1025-1033, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14450651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14450651</a>] [<a href="https://doi.org/10.1212/wnl.11.12.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14450651">Jacob et al., 1961</a>; <a href="#18" class="mim-tip-reference" title="Gardner, J. H., Maloney, W. <strong>Hereditary brachial and cranial neuritis genetically linked with ocular hypotelorism and syndactyly. (Abstract)</strong> Neurology 18: 278, 1968."None>Gardner and Maloney, 1968</a>). <a href="#55" class="mim-tip-reference" title="Stogbauer, F., Young, P., Timmerman, V., Spoelders, P., Ringelstein, E. B., Van Broeckhoven, C., Kurlemann, G. <strong>Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25.</strong> Hum. Genet. 99: 685-687, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9150742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9150742</a>] [<a href="https://doi.org/10.1007/s004390050430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9150742">Stogbauer et al. (1997)</a> found linkage of neuritis with brachial predilection to 17q24-q25 in a region distinct from the 17p location of PMP22. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4003034+9150742+2540008+7991107+14450651" 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="#47" class="mim-tip-reference" title="Roos, D., Thygesen, P. <strong>Familial recurrent polyneuropathy: a family and a survey.</strong> Brain 95: 235-248, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4347629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4347629</a>] [<a href="https://doi.org/10.1093/brain/95.2.235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4347629">Roos and Thygesen (1972)</a> thought X-linked dominant inheritance could not be excluded; autosomal dominant inheritance is proved, however, by the reports of father-to-son transmission by <a href="#10" class="mim-tip-reference" title="Davies, D. M. <strong>Recurrent peripheral-nerve palsies in a family.</strong> Lancet 264: 266-268, 1954. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13184660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13184660</a>] [<a href="https://doi.org/10.1016/s0140-6736(54)90193-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13184660">Davies (1954)</a>, <a href="#32" class="mim-tip-reference" title="Lhermitte, F., Gautier, J. C., Rosa, A. <strong>Neuropathies recurrentes familiales.</strong> Rev. Neurol. 128: 419-424, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4368241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4368241</a>]" pmid="4368241">Lhermitte et al. (1973)</a>, <a href="#8" class="mim-tip-reference" title="Cruz Martinez, A., Perez Conde, M. C., Ramon y Cajal, S., Martinez, A. <strong>Recurrent familial polyneuropathy with liability to pressure palsies: special regards to electrophysiological aspects of 25 members from 7 families.</strong> Electromyogr. Clin. Neurophysiol. 17: 101-124, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/880924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">880924</a>]" pmid="880924">Cruz Martinez et al. (1977)</a>, <a href="#13" class="mim-tip-reference" title="Dubi, J., Regli, F., Bischoff, A., Schneider, C., de Crousaz, G. <strong>Recurrent familial neuropathy with liability to pressure palsies: report of two cases and ultrastructural nerve study.</strong> J. Neurol. 220: 43-55, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/84066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">84066</a>] [<a href="https://doi.org/10.1007/BF00313147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="84066">Dubi et al. (1979)</a>, and <a href="#24" class="mim-tip-reference" title="Hinault, P., Menault, F., Le Marec, B., Sabouraud, O. <strong>Neuropathie recurrente familiale: a propos d'une famille.</strong> J. Genet. Hum. 29: 409-417, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7328415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7328415</a>]" pmid="7328415">Hinault et al. (1981)</a>. Subclinical electrophysiologic abnormalities permit demonstration of autosomal dominant inheritance (<a href="#52" class="mim-tip-reference" title="Staal, A., De Weerdt, C. J., Went, L. N. <strong>Hereditary compression syndrome of peripheral nerves.</strong> Neurology 15: 1008-1017, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4285163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4285163</a>] [<a href="https://doi.org/10.1212/wnl.15.11.1008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4285163">Staal et al., 1965</a>; <a href="#12" class="mim-tip-reference" title="Debruyne, J., Dehaene, I., Martin, J. J. <strong>Hereditary pressure-sensitive neuropathy.</strong> J. Neurol. Sci. 47: 385-394, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6932477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6932477</a>] [<a href="https://doi.org/10.1016/0022-510x(80)90091-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6932477">Debruyne et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4285163+4368241+7328415+13184660+6932477+84066+4347629+880924" 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>Using DNA markers, <a href="#7" class="mim-tip-reference" title="Chance, P. F., Alderson, M. K., Leppig, K. A., Lensch, M. W., Matsunami, N., Smith, B., Swanson, P. D., Odelberg, S. J., Disteche, C. M., Bird, T. D. <strong>DNA deletion associated with hereditary neuropathy with liability to pressure palsies.</strong> Cell 72: 143-151, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8422677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8422677</a>] [<a href="https://doi.org/10.1016/0092-8674(93)90058-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8422677">Chance et al. (1993)</a> demonstrated a large interstitial deletion in distal 17p11.2 in persons with HNPP from 3 unrelated pedigrees (<a href="/entry/601097#0004">601097.0004</a>). In 1 pedigree, de novo genesis of the deletion was documented. The deletion spanned approximately 1.5 Mb and included all markers that were known to be duplicated in CMT1A. The deleted region appeared uniform in all pedigrees and included the gene for peripheral myelin protein-22 (PMP22), the gene that is duplicated or the site of point mutation in CMT1A. Since the breakpoints in HNPP and CMT1A map to the same intervals in 17p11.2, these genetic disorders may be the result of reciprocal products of unequal crossover. The relationship of HNPP to the PMP22 gene was further supported by the demonstration by <a href="#37" class="mim-tip-reference" title="Mariman, E. C. M., Gabreels-Festen, A. A. W. M., van Beersum, S. E. C., Jongen, P. J. H., Ropers, H.-H., Gabreels, F. J. M. <strong>Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.</strong> Hum. Genet. 92: 87-90, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8396068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8396068</a>] [<a href="https://doi.org/10.1007/BF00216152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8396068">Mariman et al. (1993)</a> of close linkage to DNA markers in the same region as that to which CMT1A had been mapped. In keeping with this possibility was the finding that D17S122, another marker from the CMT1A region, displayed apparent loss of heterozygosity in the large Dutch family they studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8396068+8422677" 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="#30" class="mim-tip-reference" title="Le Guern, E., Sturtz, F., Gugenheim, M., Gouider, R., Bonnebouche, C., Ravise, N., Gonnaud, P.-M., Tardieu, S., Bouche, P., Chazot, G., Agid, Y., Vandenberghe, A., Brice, A. <strong>Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).</strong> Cytogenet. Cell Genet. 65: 261-264, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7903071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7903071</a>] [<a href="https://doi.org/10.1159/000133643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7903071">Le Guern et al. (1994)</a> found deletion of the D17S122 locus in all affected members of 7 French families with HNPP. In none was an allele contributed to the affected offspring by the affected parent, indicating an interstitial deletion within the 17p11.2 region. Thus, they confirmed the 'mirror image' deletion/duplication relationship of HNPP and CMT1A (see <a href="/entry/601097#0004">601097.0004</a>). <a href="#46" class="mim-tip-reference" title="Reisecker, F., Leblhuber, F., Lexner, R., Radner, G., Rosenkranz, W., Wagner, K. <strong>A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings.</strong> Neurology 44: 753-755, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7909361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7909361</a>] [<a href="https://doi.org/10.1212/wnl.44.4.753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7909361">Reisecker et al. (1994)</a> described an apparently new mutation case due to deletion of the PMP22 gene inherited from the mother, who did not show the mutation. In 3 families with HNPP, <a href="#58" class="mim-tip-reference" title="Verhalle, D., Lofgren, A., Nelis, E., Dehaene, I., Theys, P., Lammens, M., Dom, R., Van Broeckhoven, C., Robberecht, W. <strong>Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.</strong> Ann. Neurol. 35: 704-708, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8210227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8210227</a>] [<a href="https://doi.org/10.1002/ana.410350611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8210227">Verhalle et al. (1994)</a> confirmed the presence of a deletion on 17p11.2, which included all the markers known to be duplicated in CMT1A. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7903071+8210227+7909361" 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="#51" class="mim-tip-reference" title="Silander, K., Halonen, P., Sara, R., Kalimo, H., Falck, B., Savontaus, M.-L. <strong>DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).</strong> J. Neurol. Neurosurg. Psychiat. 57: 1260-1262, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7931393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7931393</a>] [<a href="https://doi.org/10.1136/jnnp.57.10.1260" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7931393">Silander et al. (1994)</a> found deletions in 17p11.2 in all affected patients in 13 Finnish families with HNPP. <a href="#38" class="mim-tip-reference" title="Mariman, E. C. M., Gabreels-Festen, A. A. W. M., van Beersum, S. E. C., Valentijn, L. J., Baas, F., Bolhuis, P. A., Jongen, P. J. H., Ropers, H. H., Gabreels, F. J. M. <strong>Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.</strong> Ann. Neurol. 36: 650-655, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7944298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7944298</a>] [<a href="https://doi.org/10.1002/ana.410360415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7944298">Mariman et al. (1994)</a> found the 17p deletion in 15 of 22 Dutch families with HNPP diagnosed clinically, electrophysiologically, and, in all cases but 1, demonstration of tomacula on sural nerve biopsies. Single-strand conformation analysis of the protein coding regions of the PMP22 gene did not reveal mutations in patients from the 7 families without the 17p deletion. <a href="#57" class="mim-tip-reference" title="Umehara, F., Kiwaki, T., Yoshikawa, H., Nishimura, T., Nakagawa, M., Matsumoto, W., Hashimoto, K., Izumo, S., Arimura, Y., Arimura, K., Kuriyama, M., Osame, M. <strong>Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies.</strong> J. Neurol. Sci. 133: 173-176, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8583222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8583222</a>] [<a href="https://doi.org/10.1016/0022-510x(95)00188-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8583222">Umehara et al. (1995)</a> found deletions in 17p11.2 in 2 unrelated Japanese families with HNPP. <a href="#20" class="mim-tip-reference" title="Gonnaud, P. M., Sturtz, F., Fourbil, Y., Bonnebouche, C., Tranchant, C., Warter, J. M., Chazot, G., Bady, B., Vial, C., Brechard, A. S., Vandenberghe, A. <strong>DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations.</strong> Acta Neurol. Scand. 92: 313-318, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8848937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8848937</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1995.tb00135.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8848937">Gonnaud et al. (1995)</a> found interstitial deletions of the 17p11.2 region in affected and unaffected members of 4 unrelated families, including an affected woman who did not receive the paternal allele for PMP22. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8583222+7944298+7931393+8848937" 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>Most de novo CMT1A duplications and HNPP deletions have been of paternal origin. <a href="#31" class="mim-tip-reference" title="LeGuern, E., Gouider, R., Ravise, N., Lopes, J., Tardieu, S., Gugenheim, M., Abbas, N., Bouche, P., Agid, Y., Brice, A. <strong>A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?</strong> Hum. Molec. Genet. 5: 103-106, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8789446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8789446</a>] [<a href="https://doi.org/10.1093/hmg/5.1.103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8789446">LeGuern et al. (1996)</a> investigated a rare case of de novo HNPP of maternal origin. Affected individuals in the family carried a deletion corresponding to the CMT1A/HNPP monomer unit. Segregation analysis of 17p12-p11 markers in the family indicated that the deletion was not generated by unequal crossing over between homologous chromosomes 17, as in de novo cases of paternal origin, but rather by an intrachromosomal rearrangement. The authors concluded that 2 distinct mechanisms can, therefore, lead to the same 17p11.2 deletion. Intrachromosomal rearrangement may be specific to maternal transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8789446" 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="#35" class="mim-tip-reference" title="Lopes, J., Tardieu, S., Silander, K., Blair, I., Vandenberghe, A., Palau, F., Ruberg, M., Brice, A., LeGuern, E. <strong>Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.</strong> Hum. Molec. Genet. 8: 2285-2292, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545609</a>] [<a href="https://doi.org/10.1093/hmg/8.12.2285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10545609">Lopes et al. (1999)</a> sequenced the crossover hotspot in 28 patients with CMT1A or HNPP. Rearrangements in 3 of 4 HNPP patients were of maternal origin, and 2 of 4 were intrachromosomal in nature. Some patients exhibited chimeric sequences between proximal and distal repeat sequences in the region (CMT1A-REPs), suggesting conversion of DNA segments associated with the crossing-over. The finding of rearrangements supported a double-strand break repair model, which was first described in yeast (<a href="#56" class="mim-tip-reference" title="Szostak, J. W., Orr-Weaver, T. L., Rothstein, R. J., Stahl, F. W. <strong>The double-strand-break repair model for recombination.</strong> Cell 33: 25-35, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6380756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6380756</a>] [<a href="https://doi.org/10.1016/0092-8674(83)90331-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6380756">Szostak et al., 1983</a>). Successive steps of this model are heteroduplex DNA formation, mismatch correction, and gene conversion. The authors hypothesized that the double-strand break repair model of DNA exchange may apply universally from yeasts to humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6380756+10545609" 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="#27" class="mim-tip-reference" title="Kleopa, K. A., Georgiou, D.-M., Nicolaou, P., Koutsou, P., Papathanasiou, E., Kyriakides, T., Christodoulou, K. <strong>A novel PMP22 mutation ser22phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.</strong> Neurogenetics 5: 171-175, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15205993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15205993</a>] [<a href="https://doi.org/10.1007/s10048-004-0184-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15205993">Kleopa et al. (2004)</a> reported a family from Cyprus in which 4 affected individuals had features of HNPP and/or CMT1A. One patient presented with typical HNPP, which later progressed to severe CMT1, 2 patients had HNPP with features of CMT1, and 1 patient had a chronic asymptomatic CMT1 phenotype. All 4 patients had the same heterozygous point mutation in the PMP22 gene (<a href="/entry/601457#0019">601457.0019</a>). <a href="#27" class="mim-tip-reference" title="Kleopa, K. A., Georgiou, D.-M., Nicolaou, P., Koutsou, P., Papathanasiou, E., Kyriakides, T., Christodoulou, K. <strong>A novel PMP22 mutation ser22phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.</strong> Neurogenetics 5: 171-175, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15205993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15205993</a>] [<a href="https://doi.org/10.1007/s10048-004-0184-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15205993">Kleopa et al. (2004)</a> emphasized the broad phenotypic spectrum resulting from mutations in the PMP22 gene, as well as the phenotypic overlap of HNPP and CMT1A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15205993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In southwestern Finland, with a population of 435,000, <a href="#41" class="mim-tip-reference" title="Meretoja, P., Silander, K., Kalimo, H., Aula, P., Meretoja, A., Savontaus, M. L. <strong>Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland.</strong> Neuromusc. Disord. 7: 529-532, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9447611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9447611</a>] [<a href="https://doi.org/10.1016/s0960-8966(97)00100-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9447611">Meretoja et al. (1997)</a> established a diagnosis of HNPP in 69 patients from 23 unrelated families through family and medical history, clinical, neurologic, and neurophysiologic examinations, and demonstration of deletion at 17p11.2 in at least one member of each family. This gave a prevalence of at least 16/100,000, which is remarkably high. However, due to the insidious nature of HNPP, this is still probably an underestimation. The prevalence of HNPP was somewhat lower than that for CMT in this population, which agreed with the proposal that HNPP and CMT1A are reciprocal products of the same unequal crossing-over. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9447611" 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="#40" class="mim-tip-reference" title="Maycox, P. R., Ortuno, D., Burrola, P., Kuhn, R., Bieri, P. L., Arrezo, J. C., Lemke, G. <strong>A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies.</strong> Molec. Cell. Neurosci. 8: 405-416, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143558</a>] [<a href="https://doi.org/10.1006/mcne.1997.0600" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9143558">Maycox et al. (1997)</a> found that transgenic mice expressing antisense PMP22 RNA exhibited modestly reduced levels of PMP22 together with a phenotype reminiscent of HNPP. Transgenic antisense homozygotes displayed a striking movement disorder and a slowing of nerve conduction that worsened with age. The authors found that a subset of axons had thickened myelin sheaths and tomacula in young adults, with significant myelin degeneration detected in older animals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9143558" 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="#11" class="mim-tip-reference" title="De Jong, J. G. Y. <strong>Over families met hereditarie disposite tot het optreten van neuritiden, gecorreleard met migraine.</strong> Monatsschr. Psychiatr. Neurol. 50: 60-76, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20271590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20271590</a>]" pmid="20271590">De Jong (1947)</a> was the first to describe HNPP in a large family; <a href="#28" class="mim-tip-reference" title="Koehler, P. J. <strong>Hereditary neuropathy with liability to pressure palsies: the first publication (1947).</strong> Neurology 60: 1211-1213, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12682341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12682341</a>] [<a href="https://doi.org/10.1212/01.wnl.0000056044.69057.d3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12682341">Koehler (2003)</a> reviewed important features of the article and provided a biographic sketch of de Jong (1909-1998). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20271590+12682341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Arts1983" class="mim-tip-reference" title="Arts, W. F. M., Busch, H. F. M., Van Den Brand, H. J., Jennekens, F. G. I., Frants, R. R., Stefanko, S. Z. <strong>Hereditary neuralgic amyotrophy: clinical, genetic, electrophysiological and histopathological studies.</strong> J. Neurol. Sci. 62: 261-279, 1983.">Arts et al. (1983)</a>; <a href="#Behse1972" class="mim-tip-reference" title="Behse, F., Buchthal, F., Carlsen, F., Knapplis, G. G. <strong>Hereditary neuropathy with liability to pressure palsies: electrophysiological and histopathological aspects.</strong> Brain 95: 777-794, 1972.">Behse et al. (1972)</a>; <a href="#Bradley1975" class="mim-tip-reference" title="Bradley, W. G., Madrid, R., Thrush, D. C., Campbell, M. J. <strong>Recurrent brachial plexus neuropathy.</strong> Brain 98: 381-398, 1975.">Bradley et al. (1975)</a>; <a href="#Geiger1974" class="mim-tip-reference" title="Geiger, L. R., Mancall, E. L., Penn, A. S., Tucker, S. H. <strong>Familial neuralgic amyotrophy: report of three families with review of the literature.</strong> Brain 97: 87-102, 1974.">Geiger et al. (1974)</a>
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Aarskog, N. K., Vedeler, C. A.
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<strong>Real-time quantitative polymerase chain reaction: a new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.</strong>
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Hum. Genet. 107: 494-498, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11140948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11140948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11140948" 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/10.1007/s004390000399" target="_blank">Full Text</a>]
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Airaksinen, E. M., Iivanainen, M., Karli, P., Sainio, K., Haltia, M.
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<strong>Hereditary recurrent brachial plexus neuropathy with dysmorphic features.</strong>
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Acta Neurol. Scand. 71: 309-316, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4003034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4003034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4003034" 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/10.1111/j.1600-0404.1985.tb03205.x" target="_blank">Full Text</a>]
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<a id="Arts1983" class="mim-anchor"></a>
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Arts, W. F. M., Busch, H. F. M., Van Den Brand, H. J., Jennekens, F. G. I., Frants, R. R., Stefanko, S. Z.
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<strong>Hereditary neuralgic amyotrophy: clinical, genetic, electrophysiological and histopathological studies.</strong>
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J. Neurol. Sci. 62: 261-279, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6668475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6668475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6668475" 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/10.1016/0022-510x(83)90204-6" target="_blank">Full Text</a>]
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Barisic, N., Skarpa, D., Jusic, A., Jadro-Santel, D.
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<strong>Steroid responsive familial neuropathy with liability to pressure palsies.</strong>
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Neuropediatrics 21: 191-192, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2290479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2290479</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2290479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Behse, F., Buchthal, F., Carlsen, F., Knapplis, G. G.
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<strong>Hereditary neuropathy with liability to pressure palsies: electrophysiological and histopathological aspects.</strong>
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Brain 95: 777-794, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4345910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4345910</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4345910" 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/95.4.777" target="_blank">Full Text</a>]
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<a id="Bradley1975" class="mim-anchor"></a>
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Bradley, W. G., Madrid, R., Thrush, D. C., Campbell, M. J.
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<strong>Recurrent brachial plexus neuropathy.</strong>
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Brain 98: 381-398, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/171026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">171026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=171026" 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/98.3.381" target="_blank">Full Text</a>]
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Chance, P. F., Alderson, M. K., Leppig, K. A., Lensch, M. W., Matsunami, N., Smith, B., Swanson, P. D., Odelberg, S. J., Disteche, C. M., Bird, T. D.
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<strong>DNA deletion associated with hereditary neuropathy with liability to pressure palsies.</strong>
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Cell 72: 143-151, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8422677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8422677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8422677" 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/10.1016/0092-8674(93)90058-x" target="_blank">Full Text</a>]
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Cruz Martinez, A., Perez Conde, M. C., Ramon y Cajal, S., Martinez, A.
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<strong>Recurrent familial polyneuropathy with liability to pressure palsies: special regards to electrophysiological aspects of 25 members from 7 families.</strong>
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Electromyogr. Clin. Neurophysiol. 17: 101-124, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/880924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">880924</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=880924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cruz-Martinez, A., Bort, S., Arpa, J., Palau, F.
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<strong>Hereditary neuropathy with liability to pressure palsies (HNPP) revealed after weight loss.</strong>
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Europ. Neurol. 37: 257-260, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9208274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9208274</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9208274" 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/10.1159/000117463" target="_blank">Full Text</a>]
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<a id="Davies1954" class="mim-anchor"></a>
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Davies, D. M.
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<strong>Recurrent peripheral-nerve palsies in a family.</strong>
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Lancet 264: 266-268, 1954. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13184660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13184660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13184660" 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/s0140-6736(54)90193-2" target="_blank">Full Text</a>]
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<a id="De Jong1947" class="mim-anchor"></a>
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De Jong, J. G. Y.
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<strong>Over families met hereditarie disposite tot het optreten van neuritiden, gecorreleard met migraine.</strong>
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Monatsschr. Psychiatr. Neurol. 50: 60-76, 1947.
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[<a href="https://doi.org/10.1016/0022-510x(80)90091-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00313147" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0887-8994(99)00086-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/97.1.87" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.44.12.2250" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.45.11.2018" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000038440.62977.5c" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.11.12.1025" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10048-004-0184-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.64.7.974" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.58.12.1769" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00216152" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7909361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7909361</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7909361" 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/10.1212/wnl.44.4.753" target="_blank">Full Text</a>]
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<a id="Roos1972" class="mim-anchor"></a>
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Roos, D., Thygesen, P.
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<strong>Familial recurrent polyneuropathy: a family and a survey.</strong>
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[<a href="https://doi.org/10.1093/brain/95.2.235" target="_blank">Full Text</a>]
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Sellman, M. S., Mayer, R. F.
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<strong>Conduction block in hereditary neuropathy with susceptibility to pressure palsies.</strong>
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Muscle Nerve 10: 621-625, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3477693" 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/mus.880100706" target="_blank">Full Text</a>]
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<strong>Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis.</strong>
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[<a href="https://doi.org/10.1136/jmg.34.11.889" target="_blank">Full Text</a>]
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Shaibani, A., Gooch, C., Harati, Y.
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<strong>Moving toes and myoclonus associated with hereditary neuropathy with liability to pressure palsy (HNPP).</strong>
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Muscle Nerve 20: 881-883, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9179161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9179161</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9179161" 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/(sici)1097-4598(199707)20:7<881::aid-mus13>3.0.co;2-v" target="_blank">Full Text</a>]
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Silander, K., Halonen, P., Sara, R., Kalimo, H., Falck, B., Savontaus, M.-L.
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<strong>DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).</strong>
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J. Neurol. Neurosurg. Psychiat. 57: 1260-1262, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7931393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7931393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7931393" 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/10.1136/jnnp.57.10.1260" target="_blank">Full Text</a>]
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<a id="Staal1965" class="mim-anchor"></a>
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Staal, A., De Weerdt, C. J., Went, L. N.
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<strong>Hereditary compression syndrome of peripheral nerves.</strong>
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Neurology 15: 1008-1017, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4285163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4285163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4285163" 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/10.1212/wnl.15.11.1008" target="_blank">Full Text</a>]
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Stockton, D. W., Meade, R. A., Netscher, D. T., Epstein, M. J., Shenaq, S. M., Shaffer, L. G., Lupski, J. R.
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<strong>Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.</strong>
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Arch. Neurol. 58: 1635-1637, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11594922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11594922</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11594922" 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.58.10.1635" target="_blank">Full Text</a>]
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Stogbauer, F., Young, P., Kerschensteiner, M., Ringelstein, E. B., Assmann, G., Funke, H.
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<strong>Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene.</strong>
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Muscle Nerve 21: 1199-1201, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9703447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9703447</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9703447" 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/(sici)1097-4598(199809)21:9<1199::aid-mus12>3.0.co;2-n" target="_blank">Full Text</a>]
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Stogbauer, F., Young, P., Timmerman, V., Spoelders, P., Ringelstein, E. B., Van Broeckhoven, C., Kurlemann, G.
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<strong>Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9150742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9150742</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9150742" 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/10.1007/s004390050430" target="_blank">Full Text</a>]
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Szostak, J. W., Orr-Weaver, T. L., Rothstein, R. J., Stahl, F. W.
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<strong>The double-strand-break repair model for recombination.</strong>
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Cell 33: 25-35, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6380756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6380756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6380756" 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/10.1016/0092-8674(83)90331-8" target="_blank">Full Text</a>]
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Umehara, F., Kiwaki, T., Yoshikawa, H., Nishimura, T., Nakagawa, M., Matsumoto, W., Hashimoto, K., Izumo, S., Arimura, Y., Arimura, K., Kuriyama, M., Osame, M.
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<strong>Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies.</strong>
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J. Neurol. Sci. 133: 173-176, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8583222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8583222</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8583222" 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/10.1016/0022-510x(95)00188-8" target="_blank">Full Text</a>]
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Verhalle, D., Lofgren, A., Nelis, E., Dehaene, I., Theys, P., Lammens, M., Dom, R., Van Broeckhoven, C., Robberecht, W.
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<strong>Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.</strong>
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Ann. Neurol. 35: 704-708, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8210227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8210227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8210227" 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.410350611" target="_blank">Full Text</a>]
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<a id="Wahle1958" class="mim-anchor"></a>
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Wahle, H., Tonnis, D.
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<strong>Familiaere Anfaelligkeit gegenueber Druckschaedigungen peripherer Nerven.</strong>
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Fortschr. Neurol. Psychiatr. Grenzgeb. 26: 371-376, 1958.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13562331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13562331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13562331" 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="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 3/24/2011
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<div class="row collapse" id="mimCollapseContributors">
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Cassandra L. Kniffin - updated : 4/1/2008<br>Cassandra L. Kniffin - updated : 10/25/2004<br>Cassandra L. Kniffin - updated : 9/3/2003<br>Cassandra L. Kniffin - reorganized : 4/25/2003<br>Cassandra L. Kniffin - updated : 4/25/2003<br>Cassandra L. Kniffin - updated : 2/3/2003<br>Victor A. McKusick - updated : 1/21/2003<br>Victor A. McKusick - updated : 11/27/2002<br>Victor A. McKusick - updated : 9/18/2002<br>Cassandra L. Kniffin - updated : 8/20/2002<br>Victor A. McKusick - updated : 8/16/2002<br>Victor A. McKusick - updated : 12/19/2000<br>George E. Tiller - updated : 3/23/2000<br>Victor A. McKusick - updated : 1/31/2000<br>Victor A. McKusick - updated : 5/19/1999<br>Michael J. Wright - updated : 6/16/1998<br>Orest Hurko - updated : 5/8/1996<br>Orest Hurko - updated : 2/22/1996
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Creation Date:
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Victor A. McKusick : 6/2/1986
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alopez : 01/14/2025
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carol : 02/22/2022<br>carol : 05/14/2019<br>carol : 10/31/2017<br>carol : 10/31/2017<br>terry : 11/29/2012<br>carol : 9/14/2012<br>carol : 8/21/2012<br>alopez : 3/24/2011<br>terry : 3/24/2011<br>terry : 2/3/2009<br>wwang : 4/10/2008<br>ckniffin : 4/1/2008<br>terry : 2/3/2006<br>ckniffin : 10/25/2004<br>tkritzer : 9/8/2003<br>ckniffin : 9/3/2003<br>carol : 4/25/2003<br>carol : 4/25/2003<br>ckniffin : 4/23/2003<br>ckniffin : 4/22/2003<br>carol : 2/14/2003<br>ckniffin : 2/3/2003<br>cwells : 1/27/2003<br>tkritzer : 1/21/2003<br>carol : 12/4/2002<br>tkritzer : 12/2/2002<br>terry : 11/27/2002<br>terry : 11/22/2002<br>terry : 11/22/2002<br>tkritzer : 9/18/2002<br>tkritzer : 9/18/2002<br>carol : 8/22/2002<br>ckniffin : 8/20/2002<br>tkritzer : 8/16/2002<br>carol : 12/19/2000<br>alopez : 3/23/2000<br>carol : 1/31/2000<br>terry : 1/31/2000<br>carol : 5/20/1999<br>terry : 5/19/1999<br>terry : 6/17/1998<br>terry : 6/16/1998<br>mark : 5/8/1996<br>terry : 5/3/1996<br>terry : 4/15/1996<br>mark : 3/6/1996<br>mark : 3/5/1996<br>terry : 2/29/1996<br>mark : 2/22/1996<br>mark : 2/15/1996<br>terry : 2/9/1996<br>terry : 2/8/1996<br>mark : 3/28/1995<br>carol : 3/1/1995<br>mimadm : 12/2/1994<br>jason : 6/13/1994<br>warfield : 3/31/1994<br>carol : 11/16/1993
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<strong>#</strong> 162500
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NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
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<em>Alternative titles; symbols</em>
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POLYNEUROPATHY, FAMILIAL RECURRENT<br />
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TOMACULOUS NEUROPATHY
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<strong>SNOMEDCT:</strong> 230558006;
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<strong>ORPHA:</strong> 640;
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<strong>DO:</strong> 0060843;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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17p12
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Neuropathy, recurrent, with pressure palsies
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162500
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Autosomal dominant
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3
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PMP22
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601097
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because hereditary neuropathy with liability to pressure palsies (HNPP) can be caused by deletion of the gene encoding peripheral myelin protein-22 (PMP22; 601097); duplication of PMP22 causes Charcot-Marie-Tooth disease type 1A (CMT1A; 118220). Point mutation in PMP22 may result in HNPP or CMT1A.</p>
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<strong>Description</strong>
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<p>Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by episodic mononeuropathies at typical sites of nerve compression, most frequently affecting the peroneal nerve at the fibular head, the ulnar nerve at the elbow, the brachial plexus, the radial nerve at the spiral groove, and the median nerve at the wrist. Patients clinically have transient focal episodes of weakness and sensory loss lasting minutes to months. Over half of patients recover completely, but deficits may persist (Kleopa et al., 2004, Li et al., 2007). </p>
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<strong>Clinical Features</strong>
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<p>This disorder may have been described first by De Jong (1947) who reported a family in which 1 man and 4 women in 3 generations had recurrent peroneal neuropathy after digging potatoes in a kneeling position. Families were reported by Davies (1954) and by Earl et al. (1964). The latter group found that motor nerve conduction velocity (NCV) was reduced in some clinically normal family members. Staal et al. (1965) studied a family in which members in 4 generations showed transient unilateral peroneal palsies. The neuropathy manifested itself especially after prolonged work in a kneeling position. The family, living in Holland, knew the disease as 'bulb diggers' palsy. Other nerve palsies, such as ulna, occur as well (Davies, 1954). Females are less severely affected. In a Danish family, Roos and Thygesen (1972) observed 19 cases in 5 generations. The usual age of onset was between ages 15 and 20 years. The course of the disorder and the episodic nature of the neuropathy, which often was of mechanical provocation, suggested that it was the same disorder as that reported by Davies (1954), Wahle and Tonnis (1958), Earl et al. (1964), and others. Gabreels-Festen et al. (1992) called attention to atypical presentation of this disorder. Manifestations included pes cavus, scoliosis, and deafness. </p><p>Madrid and Bradley (1975) reviewed the pathology, which is distinguished by the presence of sausage-shaped swellings of the myelin sheath, from which the term tomaculous neuropathy (Latin: tomaculum = sausage) was derived. Oda et al. (1990) demonstrated that the tomacula occur not only in sensory nerves but also in motor nerves. </p><p>Fewings et al. (1985) reported a family. Sellman and Mayer (1987) reported conduction block in 5 nerves of 4 patients from 2 families with hereditary neuropathy with susceptibility to pressure palsies. Pathologic changes included segmental demyelination and tomaculous swellings. Barisic et al. (1990) described this disorder in monozygotic twin sisters and their father. Only 1 of the twins was clinically affected. She developed unilateral peroneal palsy 20 minutes following local pressure. A 25 to 70% reduction of motor and sensory conduction velocity was recorded in the clinically unaffected twin sister and in the father. Sural nerve biopsy showed 'sausage-like' formations. Cortisone was thought to be beneficial. </p><p>Gouider et al. (1995) found mild electrophysiologic abnormalities in all symptomatic and asymptomatic deletion carriers, even in childhood. The most consistent findings were mild increase in the distal motor latency of the median nerve at the wrist, reduced sensory velocity in the palm, and delayed distal motor latency or reduced motor velocity in the peroneal nerve. The authors found that 37.5% of the subjects had absent ankle jerks and 12.5% had global areflexia. However, even these affected subjects did not have the severe slowing or motor nerve conduction velocities that could cause confusion with Charcot-Marie-Tooth disease type 1A. </p><p>Sessa et al. (1997) described a father and son with a clinical presentation suggestive of HNPP but without typical tomacula on sural nerve biopsy. Molecular analysis confirmed a deletion at 17p11.2 in both patients. The father, a 45-year-old man, had acute onset of weakness and paresthesia in the right hand after sustained pressure. On examination 3 months later, motor deficit was present in the distribution of the right ulnar and median nerves as well as the right peroneal nerves. Pes cavus and hammertoes were present. The son, an 18-year-old parachutist, reported acute onset of weakness in his left shoulder after parachuting. Sessa et al. (1997) concluded that their observations supported the relevance of DNA analysis for the diagnosis of HNPP. </p><p>Stogbauer et al. (1998) described a 29-year-old man who had had 3 episodes of painless palsy of the brachial plexus on either the right or the left side over a period of 6 years. These episodes were not preceded by strenuous use of the affected arm or by infections. Recovery had generally been excellent. Clinical examination showed no signs of generalized neuropathy. There was no pes cavus, and deep tendon reflexes were normal. Nerve conduction velocity studies showed prolonged distal motor latencies as well as prolonged motor nerve conduction velocities of the median and peroneal nerves. Sural nerve biopsy showed demyelination and remyelination, as well as focal myelin thickening (i.e., tomacula). Using intragenic polymorphisms of the PMP22 gene, Stogbauer et al. (1998) demonstrated that the maternal allele was lost, indicating deletion. It appeared to be a de novo deletion. </p><p>There are conditions that mimic the symptoms of carpal tunnel syndrome (CTS; 115430) or predispose people to develop it. One such condition is HNNP, which most frequently manifests initially as a peripheral nerve entrapment, including median nerve compression at the carpal canal with delayed nerve conduction velocities. Potocki et al. (1999) described a family with dominantly inherited CTS that was associated with the chromosome deletion in 17p12 that causes HNPP. The authors suggested that HNPP is probably underdiagnosed because it typically has episodic and transient clinical manifestations. Stockton et al. (2001) evaluated 50 patients diagnosed with idiopathic CTS and found no instance of the chromosome 17 microdeletion that causes HNPP. </p><p>Cruz-Martinez et al. (1997) reported 2 young females who developed unilateral peroneal nerve palsy after a diet for fashion reasons. Both patients had no previous history of palsies. In both, the palsy developed after nocturnal sleeping. A deletion of the PMP22 gene was demonstrated. Nerve conduction studies showed abnormalities in several relatives, some of whom had had palsies. Conduction block at the fibular head was in agreement with the hypothesis that the peroneal nerve becomes more susceptible to minor injuries, perhaps as a result of the loss of subcutaneous tissue. 'Slimmer paralysis' can occur in persons with HNPP and no history of previous palsy and probably can occur occasionally in individuals without the genetic defect. Weight loss must be added to trivial trauma of attraction or pressure as a precipitating factor in the genetic disorder. </p><p>Shaibani et al. (1997) reported the case of a 22-year-old male who awoke with right foot drop and numbness found to be due to HNPP by nerve conduction studies, sural nerve biopsy, and molecular genetic analysis. Two months later he developed involuntary flexion/extension movements of the right toes with associated intermittent dystonic flexion of the right foot. Over the next 2 months these movements spread to the left foot and hand, and myoclonus of the left trapezius and rhomboid muscles appeared. This was thought to be the first case report of moving toes syndrome and segmental myoclonus in association with HNPP. Shaibani et al. (1997) concluded that the temporal and topographic patterns of spread of the abnormal movements suggested a central mechanism probably induced by peripheral pathology. </p><p>Felice et al. (1999) described the cases of 2 children with liability to pressure palsies: a 13-year-old girl with a droopy left shoulder that was initially attributed to scoliosis; and a 16-year-old male who presented with right biceps brachii atrophy that was first observed by his pediatrician during a routine physical examination. Nerve conduction studies in both children showed evidence of superimposed diffuse demyelinating polyneuropathy. The girl had frequently carried a heavy backpack on both shoulders. </p><p>Ohkoshi et al. (2001) reported a 19-year-old woman who presented with 2 episodes of hand drop and a subsequent episode of aphonia and hoarseness after sleeping in the prone position. Molecular analysis showed a common deletion on 17p11.2, confirming a diagnosis of HNPP. Laryngoscopic findings showed right vocal cord paresis which resolved after 6 weeks. The authors noted that vocal cord paralysis had not previously been reported in patients with HNPP. </p><p>Korn-Lubetzki et al. (2002) described a Jewish Kurdish family in which a father and 2 daughters were diagnosed with inflammatory demyelinating polyneuropathy (139393) within a period of 10 years. DNA analysis identified the deletion on chromosome 17 that is typical of HNPP. The authors suggested that screening for the HNPP deletion in patients with atypical, recurrent, or familial inflammatory demyelinating polyneuropathy may be warranted. </p><p>Hardon et al. (2002) described a previously healthy 2-year-old boy who presented with radial nerve palsy due to HNPP. He had developed acute severe weakness of his right hand, with no other symptoms. He had the habit of sleeping with his right arm hanging through the bars of his bed. Neurologic examination revealed a paralysis of the wrist and digit extensors and of the abductor pollicis longus muscle on the right. Neurophysiologic study showed a lower right radial nerve compound motor action potential with a normal nerve conduction velocity. The mother experienced numbness in digits I through III of her left hand and was found to have prolonged motor and sensory distal latencies and moderate slowing of the NCVs of the left median nerve compatible with carpal tunnel syndrome. Both mother and son were shown to have the same deletion in the 17p11.2 region. The boy's radial nerve palsy completely recovered in 2 months. Hardon et al. (2002) concluded that even in very young children with a negative family history but otherwise typical compressive nerve palsy, the possibility of HNPP needs to be considered. </p><p>Kalfakis et al. (2002) reported a 37-year-old patient with non-Hodgkin lymphoma who was treated with a total of 4 mg vincristine and developed a tetraparesis, inability to walk, and areflexia. Genetic analysis identified the characteristic deletion of the PMP22 gene found in HNPP. Kalfakis et al. (2002) suggested that diagnostic investigations for hereditary neuropathies, including HNPP, should be performed before administration of vincristine. </p><p>Studies of patients with HNPP show accentuated distal slowing along with nonuniform conduction abnormalities at segments liable to compression, suggesting a distal myelinopathy as an underlying pathophysiologic mechanism. Li et al. (2002) evaluated 12 patients with HNPP by standard nerve conduction studies and by conduction to more proximal muscles in the arm and leg. Three CMT1A patients and 6 healthy subjects were also evaluated as controls. Li et al. (2002) found accentuated distal slowing primarily in median and peroneal nerve segments liable to pressure palsies or repetitive trauma. However, the ulnar and tibial nerves, which are less liable to compression, had minimal changes. In addition, distal latencies to more proximal muscles in the arm and leg did not have distal slowing. Li et al. (2002) concluded that their findings did not support a distal myelinopathy as a determinant of the conduction abnormalities in HNPP. </p><p>Li et al. (2007) reported clinical features of an Australian family with HNPP due to a frameshift mutation in the PMP22 gene (601097.0009); the family had previously been reported by Nicholson et al. (1994). The mean age at onset was 15 years, and all patients reported transient episodes of focal weakness or sensory loss. Nine of 11 patients had mild neurologic abnormalities and mild sensory abnormalities specifically in the feet. Electrophysiologic studies showed a pattern similar to HNPP resulting from the classic PMP22 deletion, with accentuated distal slowing occurring at sites subject to nerve compression. Three patients older than age 65 years had clinical and electrophysiologic evidence of length-dependent axonal loss. Further studies showed a 24% reduction of PMP22 levels in myelinated axons from dermal biopsies. Li et al. (2007) concluded that the phenotype of HNPP due to a PMP22 truncating mutation is indistinguishable from that due to the PMP22 1.5-Mb deletion. The findings indicated that a reduction in PMP22 is sufficient to induce the HNPP phenotype independent of effects from other genes. </p>
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<strong>Diagnosis</strong>
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<p>Aarskog and Vedeler (2000) described a quantitative PCR method for detecting both duplication and deletion of the PMP22 gene in CMT1A and HNPP, respectively. Their method of real-time quantitative PCR is a sensitive, specific, and reproducible method allowing 13 patients to be diagnosed in 2 hours. It involves no radioisotopes and requires no post-PCR handling. </p><p><strong><em>Differential Diagnosis</em></strong></p><p>
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Although HNPP shares clinical features with neuritis with brachial predilection (NAPB; 162100), they are considered distinct disorders (Gouider et al., 1994). Martinelli et al. (1989) described a family in which multiple members had intermittent brachial plexus palsy with the histologic findings of tomaculous neuropathy. Patients showed reduced interpupillary distance (hypotelorism), a finding that has been reported in neuritis with brachial predilection (Airaksinen et al., 1985; Jacob et al., 1961; Gardner and Maloney, 1968). Stogbauer et al. (1997) found linkage of neuritis with brachial predilection to 17q24-q25 in a region distinct from the 17p location of PMP22. </p>
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<strong>Inheritance</strong>
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<p>Roos and Thygesen (1972) thought X-linked dominant inheritance could not be excluded; autosomal dominant inheritance is proved, however, by the reports of father-to-son transmission by Davies (1954), Lhermitte et al. (1973), Cruz Martinez et al. (1977), Dubi et al. (1979), and Hinault et al. (1981). Subclinical electrophysiologic abnormalities permit demonstration of autosomal dominant inheritance (Staal et al., 1965; Debruyne et al., 1980). </p>
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<strong>Molecular Genetics</strong>
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<p>Using DNA markers, Chance et al. (1993) demonstrated a large interstitial deletion in distal 17p11.2 in persons with HNPP from 3 unrelated pedigrees (601097.0004). In 1 pedigree, de novo genesis of the deletion was documented. The deletion spanned approximately 1.5 Mb and included all markers that were known to be duplicated in CMT1A. The deleted region appeared uniform in all pedigrees and included the gene for peripheral myelin protein-22 (PMP22), the gene that is duplicated or the site of point mutation in CMT1A. Since the breakpoints in HNPP and CMT1A map to the same intervals in 17p11.2, these genetic disorders may be the result of reciprocal products of unequal crossover. The relationship of HNPP to the PMP22 gene was further supported by the demonstration by Mariman et al. (1993) of close linkage to DNA markers in the same region as that to which CMT1A had been mapped. In keeping with this possibility was the finding that D17S122, another marker from the CMT1A region, displayed apparent loss of heterozygosity in the large Dutch family they studied. </p><p>Le Guern et al. (1994) found deletion of the D17S122 locus in all affected members of 7 French families with HNPP. In none was an allele contributed to the affected offspring by the affected parent, indicating an interstitial deletion within the 17p11.2 region. Thus, they confirmed the 'mirror image' deletion/duplication relationship of HNPP and CMT1A (see 601097.0004). Reisecker et al. (1994) described an apparently new mutation case due to deletion of the PMP22 gene inherited from the mother, who did not show the mutation. In 3 families with HNPP, Verhalle et al. (1994) confirmed the presence of a deletion on 17p11.2, which included all the markers known to be duplicated in CMT1A. </p><p>Silander et al. (1994) found deletions in 17p11.2 in all affected patients in 13 Finnish families with HNPP. Mariman et al. (1994) found the 17p deletion in 15 of 22 Dutch families with HNPP diagnosed clinically, electrophysiologically, and, in all cases but 1, demonstration of tomacula on sural nerve biopsies. Single-strand conformation analysis of the protein coding regions of the PMP22 gene did not reveal mutations in patients from the 7 families without the 17p deletion. Umehara et al. (1995) found deletions in 17p11.2 in 2 unrelated Japanese families with HNPP. Gonnaud et al. (1995) found interstitial deletions of the 17p11.2 region in affected and unaffected members of 4 unrelated families, including an affected woman who did not receive the paternal allele for PMP22. </p><p>Most de novo CMT1A duplications and HNPP deletions have been of paternal origin. LeGuern et al. (1996) investigated a rare case of de novo HNPP of maternal origin. Affected individuals in the family carried a deletion corresponding to the CMT1A/HNPP monomer unit. Segregation analysis of 17p12-p11 markers in the family indicated that the deletion was not generated by unequal crossing over between homologous chromosomes 17, as in de novo cases of paternal origin, but rather by an intrachromosomal rearrangement. The authors concluded that 2 distinct mechanisms can, therefore, lead to the same 17p11.2 deletion. Intrachromosomal rearrangement may be specific to maternal transmission. </p><p>Lopes et al. (1999) sequenced the crossover hotspot in 28 patients with CMT1A or HNPP. Rearrangements in 3 of 4 HNPP patients were of maternal origin, and 2 of 4 were intrachromosomal in nature. Some patients exhibited chimeric sequences between proximal and distal repeat sequences in the region (CMT1A-REPs), suggesting conversion of DNA segments associated with the crossing-over. The finding of rearrangements supported a double-strand break repair model, which was first described in yeast (Szostak et al., 1983). Successive steps of this model are heteroduplex DNA formation, mismatch correction, and gene conversion. The authors hypothesized that the double-strand break repair model of DNA exchange may apply universally from yeasts to humans. </p><p>Kleopa et al. (2004) reported a family from Cyprus in which 4 affected individuals had features of HNPP and/or CMT1A. One patient presented with typical HNPP, which later progressed to severe CMT1, 2 patients had HNPP with features of CMT1, and 1 patient had a chronic asymptomatic CMT1 phenotype. All 4 patients had the same heterozygous point mutation in the PMP22 gene (601457.0019). Kleopa et al. (2004) emphasized the broad phenotypic spectrum resulting from mutations in the PMP22 gene, as well as the phenotypic overlap of HNPP and CMT1A. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population 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 southwestern Finland, with a population of 435,000, Meretoja et al. (1997) established a diagnosis of HNPP in 69 patients from 23 unrelated families through family and medical history, clinical, neurologic, and neurophysiologic examinations, and demonstration of deletion at 17p11.2 in at least one member of each family. This gave a prevalence of at least 16/100,000, which is remarkably high. However, due to the insidious nature of HNPP, this is still probably an underestimation. The prevalence of HNPP was somewhat lower than that for CMT in this population, which agreed with the proposal that HNPP and CMT1A are reciprocal products of the same unequal crossing-over. </p>
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</span>
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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>Maycox et al. (1997) found that transgenic mice expressing antisense PMP22 RNA exhibited modestly reduced levels of PMP22 together with a phenotype reminiscent of HNPP. Transgenic antisense homozygotes displayed a striking movement disorder and a slowing of nerve conduction that worsened with age. The authors found that a subset of axons had thickened myelin sheaths and tomacula in young adults, with significant myelin degeneration detected in older animals. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</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>De Jong (1947) was the first to describe HNPP in a large family; Koehler (2003) reviewed important features of the article and provided a biographic sketch of de Jong (1909-1998). </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Arts et al. (1983); Behse et al. (1972); Bradley et al. (1975);
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Geiger et al. (1974)
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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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<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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Aarskog, N. K., Vedeler, C. A.
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<strong>Real-time quantitative polymerase chain reaction: a new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.</strong>
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Hum. Genet. 107: 494-498, 2000.
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Airaksinen, E. M., Iivanainen, M., Karli, P., Sainio, K., Haltia, M.
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<strong>Hereditary recurrent brachial plexus neuropathy with dysmorphic features.</strong>
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<p class="mim-text-font">
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Arts, W. F. M., Busch, H. F. M., Van Den Brand, H. J., Jennekens, F. G. I., Frants, R. R., Stefanko, S. Z.
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Behse, F., Buchthal, F., Carlsen, F., Knapplis, G. G.
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Bradley, W. G., Madrid, R., Thrush, D. C., Campbell, M. J.
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Brain 98: 381-398, 1975.
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Chance, P. F., Alderson, M. K., Leppig, K. A., Lensch, M. W., Matsunami, N., Smith, B., Swanson, P. D., Odelberg, S. J., Disteche, C. M., Bird, T. D.
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<strong>DNA deletion associated with hereditary neuropathy with liability to pressure palsies.</strong>
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Cell 72: 143-151, 1993.
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Cruz Martinez, A., Perez Conde, M. C., Ramon y Cajal, S., Martinez, A.
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<strong>Recurrent familial polyneuropathy with liability to pressure palsies: special regards to electrophysiological aspects of 25 members from 7 families.</strong>
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Cruz-Martinez, A., Bort, S., Arpa, J., Palau, F.
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<strong>Hereditary neuropathy with liability to pressure palsies (HNPP) revealed after weight loss.</strong>
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Europ. Neurol. 37: 257-260, 1997.
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[PubMed: 9208274]
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[Full Text: https://doi.org/10.1159/000117463]
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Davies, D. M.
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<strong>Recurrent peripheral-nerve palsies in a family.</strong>
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Lancet 264: 266-268, 1954. Note: Originally Volume II.
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[PubMed: 13184660]
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[Full Text: https://doi.org/10.1016/s0140-6736(54)90193-2]
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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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De Jong, J. G. Y.
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<strong>Over families met hereditarie disposite tot het optreten van neuritiden, gecorreleard met migraine.</strong>
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Monatsschr. Psychiatr. Neurol. 50: 60-76, 1947.
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[PubMed: 20271590]
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Debruyne, J., Dehaene, I., Martin, J. J.
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<strong>Hereditary pressure-sensitive neuropathy.</strong>
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J. Neurol. Sci. 47: 385-394, 1980.
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[PubMed: 6932477]
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[Full Text: https://doi.org/10.1016/0022-510x(80)90091-x]
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Dubi, J., Regli, F., Bischoff, A., Schneider, C., de Crousaz, G.
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<strong>Recurrent familial neuropathy with liability to pressure palsies: report of two cases and ultrastructural nerve study.</strong>
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J. Neurol. 220: 43-55, 1979.
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[PubMed: 84066]
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[Full Text: https://doi.org/10.1007/BF00313147]
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Earl, C. J., Fullerton, P. M., Wakefield, G. S., Schretta, H. S.
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<strong>Hereditary neuropathy, with liability to pressure palsies: a clinical and electrophysiological study of four families.</strong>
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Quart. J. Med. 33: 481-498, 1964.
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[PubMed: 14212604]
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Felice, K. J., Leicher, C. R., DiMario, F. J., Jr.
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<strong>Hereditary neuropathy with liability to pressure palsies in children.</strong>
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Pediat. Neurol. 21: 818-821, 1999.
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[PubMed: 10593673]
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[Full Text: https://doi.org/10.1016/s0887-8994(99)00086-7]
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Fewings, J. D., Mukherjee, T. M., Blumbergs, P. C., Hallpike, J. F.
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<strong>Tomaculous neuropathy: hereditary predisposition to pressure palsies.</strong>
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Aust. New Zeal. J. Med. 15: 598-603, 1985. Note: Erratum: Aust. New Zeal. J. Med. 16: 108 only, 1986.
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[PubMed: 3004403]
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Gabreels-Festen, A. A. W. M., Gabreels, F. J. M., Joosten, E. M. G., Vingerhoets, H. M., Renier, W. O.
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<strong>Hereditary neuropathy with liability to pressure palsies in childhood.</strong>
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Neuropediatrics 23: 138-143, 1992.
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Gardner, J. H., Maloney, W.
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<strong>Hereditary brachial and cranial neuritis genetically linked with ocular hypotelorism and syndactyly. (Abstract)</strong>
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Neurology 18: 278, 1968.
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Geiger, L. R., Mancall, E. L., Penn, A. S., Tucker, S. H.
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<strong>Familial neuralgic amyotrophy: report of three families with review of the literature.</strong>
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Brain 97: 87-102, 1974.
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Gonnaud, P. M., Sturtz, F., Fourbil, Y., Bonnebouche, C., Tranchant, C., Warter, J. M., Chazot, G., Bady, B., Vial, C., Brechard, A. S., Vandenberghe, A.
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<strong>DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations.</strong>
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Acta Neurol. Scand. 92: 313-318, 1995.
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[PubMed: 8848937]
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[Full Text: https://doi.org/10.1111/j.1600-0404.1995.tb00135.x]
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<li>
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<p class="mim-text-font">
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Gouider, R., LeGuern, E., Emile, J., Tardieu, S., Cabon, F., Samid, M., Weissenbach, J., Agid, Y., Bouche, P., Brice, A.
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<strong>Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities.</strong>
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Neurology 44: 2250-2252, 1994.
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[PubMed: 7991107]
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[Full Text: https://doi.org/10.1212/wnl.44.12.2250]
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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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Gouider, R., LeGuern, E., Gugenheim, M., Tardieu, S., Maisonobe, T., Leger, J. M., Vallat, J. M., Agid, Y., Bouche, P., Brice, A.
|
|
<strong>Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.</strong>
|
|
Neurology 45: 2018-2023, 1995.
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[PubMed: 7501152]
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[Full Text: https://doi.org/10.1212/wnl.45.11.2018]
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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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Hardon, W. J., van Alfen, N., Zwarts, M. J., Rotteveel, J. J.
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<strong>Hereditary neuropathy with liability to pressure palsies in a toddler.</strong>
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Neurology 59: 2008 only, 2002.
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[PubMed: 12499508]
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[Full Text: https://doi.org/10.1212/01.wnl.0000038440.62977.5c]
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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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Hinault, P., Menault, F., Le Marec, B., Sabouraud, O.
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<strong>Neuropathie recurrente familiale: a propos d'une famille.</strong>
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J. Genet. Hum. 29: 409-417, 1981.
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[PubMed: 7328415]
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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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Jacob, J. C., Andermann, F., Roob, J. P.
|
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<strong>Heredofamilial neuritis with brachial predilection.</strong>
|
|
Neurology 11: 1025-1033, 1961.
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[PubMed: 14450651]
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[Full Text: https://doi.org/10.1212/wnl.11.12.1025]
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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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Kalfakis, N., Panas, M., Karadima, G., Floroskufi, P., Kokolakis, N., Vassilopoulos, D.
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Fortschr. Neurol. Psychiatr. Grenzgeb. 26: 371-376, 1958.
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[PubMed: 13562331]
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Marla J. F. O'Neill - updated : 3/24/2011<br>Cassandra L. Kniffin - updated : 4/1/2008<br>Cassandra L. Kniffin - updated : 10/25/2004<br>Cassandra L. Kniffin - updated : 9/3/2003<br>Cassandra L. Kniffin - reorganized : 4/25/2003<br>Cassandra L. Kniffin - updated : 4/25/2003<br>Cassandra L. Kniffin - updated : 2/3/2003<br>Victor A. McKusick - updated : 1/21/2003<br>Victor A. McKusick - updated : 11/27/2002<br>Victor A. McKusick - updated : 9/18/2002<br>Cassandra L. Kniffin - updated : 8/20/2002<br>Victor A. McKusick - updated : 8/16/2002<br>Victor A. McKusick - updated : 12/19/2000<br>George E. Tiller - updated : 3/23/2000<br>Victor A. McKusick - updated : 1/31/2000<br>Victor A. McKusick - updated : 5/19/1999<br>Michael J. Wright - updated : 6/16/1998<br>Orest Hurko - updated : 5/8/1996<br>Orest Hurko - updated : 2/22/1996
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Victor A. McKusick : 6/2/1986
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