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Entry
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- #162210 - NEUROFIBROMATOSIS, FAMILIAL SPINAL
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=185&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.diseaseinfosearch.org/x/8999" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=162210[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=636" 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><a href="https://www.alliancegenome.org/disease/DOID:0070482" 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/162210" 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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<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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<a id="title" class="mim-anchor"></a>
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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> 1003465006<br />
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<strong>ORPHA:</strong> 636<br />
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<strong>DO:</strong> 0070482<br />
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">ICD+</a>
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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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162210
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</div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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NEUROFIBROMATOSIS, FAMILIAL SPINAL
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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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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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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FSNF
|
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</span>
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</h4>
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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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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
|
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/380?start=-3&limit=10&highlight=380">
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17q11.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Neurofibromatosis, familial spinal
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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/162210"> 162210 </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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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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NF1
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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/613113"> 613113 </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>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/162210" 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>
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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/162210" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/162210" 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>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal 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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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lisch nodules (iris hamartomas) may or may not be present <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834238</a>]</span><br />
|
|
|
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</span>
|
|
</div>
|
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</div>
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</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neurofibromas may or may not be present <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834239&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834239</a>]</span><br /> -
|
|
Cafe-au-lait spots may or may not be present <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834240&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834240</a>]</span><br /> -
|
|
Freckling may or may not be present <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834241</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Spinal nerve root neurofibromas, symmetric, multiple <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834236</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006851" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006851</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006851" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006851</a>]</span><br /> -
|
|
Neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834237</a>]</span><br /> -
|
|
Paraparesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1845001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1845001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G82.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G82.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221166&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221166</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002385</a>]</span><br /> -
|
|
Lower extremity weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836296</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007340</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007340</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Spinal tumors are necessary for diagnosis<br /> -
|
|
Other features of neurofibromatosis type I (NF1, <a href="/entry/162200">162200</a>) may or may not be present<br /> -
|
|
Allelic disorder to NF1<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the neurofibromin gene (NF1, <a href="/entry/613113#0018">613113.0018</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
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|
|
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|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</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">
|
|
<p>A number sign (#) is used with this entry because familial spinal neurofibromatosis is caused by heterozygous mutation in the neurofibromin gene (NF1; <a href="/entry/613113">613113</a>) on chromosome 17q11.</p>
|
|
</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>
|
|
<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; <a href="/entry/162200">162200</a>), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by <a href="#2" class="mim-tip-reference" title="Burkitt Wright, E. M. M., Sach, E., Sharif, S., Quarrell, O., Carroll, T., Whitehouse, R. W., Upadhyaya, M., Huson, S. M., Evans, D. G. R. <strong>Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.</strong> J. Med. Genet. 50: 606-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812910</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812910[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-101648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812910">Burkitt Wright et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812910" 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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</span>
|
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<div>
|
|
<br />
|
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</div>
|
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</div>
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<div>
|
|
<a id="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
|
</span>
|
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</h4>
|
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</div>
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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><a href="#6" class="mim-tip-reference" title="Pulst, S.-M., Riccardi, V. M., Fain, P., Korenberg, J. R. <strong>Familial spinal neurofibromatosis: clinical and DNA linkage analysis.</strong> Neurology 41: 1923-1927, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1745350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1745350</a>] [<a href="https://doi.org/10.1212/wnl.41.12.1923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1745350">Pulst et al. (1991)</a> reported 2 families with spinal neurofibromatosis. The first family also had cafe-au-lait spots, whereas the second family had no cafe-au-lait spots. Other signs of neurofibromatosis I (NF1; <a href="/entry/162200">162200</a>) or neurofibromatosis type II (NF2; see SWNV, <a href="/entry/101000">101000</a>), such as cutaneous tumors, Lisch nodules, or acoustic tumors, were absent in both families. Genetic linkage analysis determined that the likely location for the mutation in the first family was in the NF1 gene (odds 97:1), whereas the mutation in the second family was excluded from the NF1 locus (odds greater than 100,000:1). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1745350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Poyhonen, M., Leisti, E.-L., Kytola, S., Leisti, J. <strong>Hereditary spinal neurofibromatosis: a rare form of NF1?</strong> J. Med. Genet. 34: 184-187, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9132486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9132486</a>] [<a href="https://doi.org/10.1136/jmg.34.3.184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9132486">Poyhonen et al. (1997)</a> described a family in which 7 members in 3 generations had spinal neurofibromatosis. The affected adults showed, at the ages of 32, 37, 38, and 61 years, respectively, multiple spinal neurofibromas symmetrically affecting all spinal roots. Two patients were operated on for histopathologically proven cervical spinal neurofibromas. All patients had cafe-au-lait spots, 1 had several freckles in the axillary area, and 2 had possible dermal neurofibromas, but iris Lisch nodules were not present. Other signs of neurofibromatosis type I and type II were absent. Several patients had lower extremity weakness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9132486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Ars, E., Kruyer, H., Gaona, A., Casquero, P., Rosell, J., Volpini, V., Serra, E., Lazaro, C., Estivill, X. <strong>A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.</strong> Am. J. Hum. Genet. 62: 834-841, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529361</a>] [<a href="https://doi.org/10.1086/301803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529361">Ars et al. (1998)</a> reported a 3-generation family in which 5 members, all female, had spinal neurofibromatosis. All presented with multiple spinal neurofibromas and cafe-au-lait spots. The oldest affected patient was a 58-year-old woman who had developed progressive paraparesis of her legs and right arm at age 45 years. She had multiple cafe-au-lait spots, but no cutaneous neurofibromas. Her affected daughter was a 34-year-old woman who had surgery at 16 years of age to remove a mediastinal neurofibroma. She had multiple cafe-au-lait spots and 3 cutaneous neurofibromas. At age 23 years, she developed signs of progressive spastic paraparesis. Another 24-year-old daughter had multiple cafe-au-lait spots and a history of surgical resection of a plexiform neurofibroma on the right arm. Multiple intra- and extraspinal neurofibromas were demonstrated. A third woman in the second generation, aged 21 years, had multiple cafe-au-lait spots and Lisch nodules, as well as spinal tumors. An affected member of the third generation, a 12-year-old girl, had multiple cafe-au-lait spots and Lisch nodules. Spinal MRI showed multiple bilateral tumors from C2 to D4 and 2 paravertebral masses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Kaufmann, D., Muller, R., Bartelt, B., Wolf, M., Kunzi-Rapp, K., Hanemann, C. O., Fahsold, R., Hein, C., Vogel, W., Assum, G. <strong>Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene.</strong> Am. J. Hum. Genet. 69: 1395-1400, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11704931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11704931</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11704931[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/324648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11704931">Kaufmann et al. (2001)</a> reported 2 unrelated families with spinal neurofibromatosis but without cafe-au-lait macules. The 32-year-old proposita in the first family had an intrathoracic upper mediastinal tumor detected at age 17 years. Subsequent MRI examinations detected multiple tumors of the psoas muscle and cervical and lumbar spine. Two of the spinal tumors were surgically excised and identified as a schwannoma and neurofibroma. In addition, a subcutaneous neurofibroma and a subcutaneous schwannoma were excised. Tumors in the CNS typical of NF2 were not found. She had no cafe-au-lait macules, intertriginous freckling, or Lisch nodules. There were no signs of mental retardation or scoliosis. The 31-year-old proposita from the second family observed multiple painful intradermal tumors of the extremities and trunk at the age of 17 years, 1 of which was identified as a neurofibroma. Another tumor, identified histologically as a schwannoma, was excised from the thoracic spine at age 29 years. Multiple spinal tumors were identified by MRI scans in all segments of the spine, especially in C5/C6. Other symptoms typical of NF1, such as cafe-au-lait macules, freckles, Lisch nodules, scoliosis, or tumors of the CNS, were not found. The patient's mother had 2 lumbar hyperpigmentations and presented with acute lumbago. MRI scan showed enlarged spinal nerves in all segments of the spine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11704931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Burkitt Wright, E. M. M., Sach, E., Sharif, S., Quarrell, O., Carroll, T., Whitehouse, R. W., Upadhyaya, M., Huson, S. M., Evans, D. G. R. <strong>Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.</strong> J. Med. Genet. 50: 606-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812910</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812910[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-101648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812910">Burkitt Wright et al. (2013)</a> reported 5 families with spinal neurofibromatosis. Most of the probands presented with neurologic symptoms in adulthood and were found to have spinal tumors on imaging; they usually had no pigmentary features or subcutaneous neurofibromas. Affected family members were subsequently identified when screened by imaging and/or molecular studies. A range of mutations was found in the NF1 gene in these families, with no specific mutation type associated with the presentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of spinal neurofibromatosis in the families reported by <a href="#6" class="mim-tip-reference" title="Pulst, S.-M., Riccardi, V. M., Fain, P., Korenberg, J. R. <strong>Familial spinal neurofibromatosis: clinical and DNA linkage analysis.</strong> Neurology 41: 1923-1927, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1745350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1745350</a>] [<a href="https://doi.org/10.1212/wnl.41.12.1923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1745350">Pulst et al. (1991)</a> was consistent with autosomal dominant inheritance, with at least 1 instance of male-to-male transmission in each family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1745350" 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 genetic linkage analysis with DNA markers tightly linked to the NF1 and NF2 loci, <a href="#6" class="mim-tip-reference" title="Pulst, S.-M., Riccardi, V. M., Fain, P., Korenberg, J. R. <strong>Familial spinal neurofibromatosis: clinical and DNA linkage analysis.</strong> Neurology 41: 1923-1927, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1745350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1745350</a>] [<a href="https://doi.org/10.1212/wnl.41.12.1923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1745350">Pulst et al. (1991)</a> determined that the likely location for the mutation in a family with spinal neurofibromatosis and cafe-au-lait spots was in the NF1 gene with odds of 97:1, whereas the mutation in a second family, with spinal neurofibromatosis but without cafe-au-lait spots, was excluded from the NF1 locus with odds of more than 100,000:1. However, markers for the NF2 locus were uninformative in the unlinked family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1745350" 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>Linkage study of the affected family reported by <a href="#5" class="mim-tip-reference" title="Poyhonen, M., Leisti, E.-L., Kytola, S., Leisti, J. <strong>Hereditary spinal neurofibromatosis: a rare form of NF1?</strong> J. Med. Genet. 34: 184-187, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9132486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9132486</a>] [<a href="https://doi.org/10.1136/jmg.34.3.184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9132486">Poyhonen et al. (1997)</a> suggested close linkage to the NF1 locus and excluded linkage with the NF2 locus. DNA analysis of histopathologically verified spinal neurofibromas in 2 patients showed no evidence of loss of heterozygosity (LOH) at 17q11.2. <a href="#5" class="mim-tip-reference" title="Poyhonen, M., Leisti, E.-L., Kytola, S., Leisti, J. <strong>Hereditary spinal neurofibromatosis: a rare form of NF1?</strong> J. Med. Genet. 34: 184-187, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9132486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9132486</a>] [<a href="https://doi.org/10.1136/jmg.34.3.184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9132486">Poyhonen et al. (1997)</a> suggested that the disorder was a clinically distinct form of neurofibromatosis with extensive spinal involvement and cafe-au-lait macules which may be allelic to classic NF1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9132486" 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 affected members of a family with spinal neurofibromatosis, <a href="#1" class="mim-tip-reference" title="Ars, E., Kruyer, H., Gaona, A., Casquero, P., Rosell, J., Volpini, V., Serra, E., Lazaro, C., Estivill, X. <strong>A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.</strong> Am. J. Hum. Genet. 62: 834-841, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529361</a>] [<a href="https://doi.org/10.1086/301803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529361">Ars et al. (1998)</a> identified a frameshift mutation in the NF1 gene (<a href="/entry/613113#0018">613113.0018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 families with spinal neurofibromas but no cafe-au-lait macules, <a href="#3" class="mim-tip-reference" title="Kaufmann, D., Muller, R., Bartelt, B., Wolf, M., Kunzi-Rapp, K., Hanemann, C. O., Fahsold, R., Hein, C., Vogel, W., Assum, G. <strong>Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene.</strong> Am. J. Hum. Genet. 69: 1395-1400, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11704931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11704931</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11704931[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/324648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11704931">Kaufmann et al. (2001)</a> identified 2 different mutations in the NF1 gene (<a href="/entry/613113#0028">613113.0028</a> and <a href="/entry/613113#0029">613113.0029</a>, respectively). Both NF1 mutations caused a reduction in neurofibromin of approximately 50%, with no truncated protein present in the cells. The findings demonstrated that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria for spinal NF. <a href="#3" class="mim-tip-reference" title="Kaufmann, D., Muller, R., Bartelt, B., Wolf, M., Kunzi-Rapp, K., Hanemann, C. O., Fahsold, R., Hein, C., Vogel, W., Assum, G. <strong>Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene.</strong> Am. J. Hum. Genet. 69: 1395-1400, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11704931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11704931</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11704931[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/324648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11704931">Kaufmann et al. (2001)</a> suggested that the spinal NF phenotype may be caused by a modifying gene that partially compensates for the effects of neurofibromin deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11704931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 affected members of the family with spinal NF and cafe-au-lait spots reported by <a href="#6" class="mim-tip-reference" title="Pulst, S.-M., Riccardi, V. M., Fain, P., Korenberg, J. R. <strong>Familial spinal neurofibromatosis: clinical and DNA linkage analysis.</strong> Neurology 41: 1923-1927, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1745350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1745350</a>] [<a href="https://doi.org/10.1212/wnl.41.12.1923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1745350">Pulst et al. (1991)</a>, <a href="#4" class="mim-tip-reference" title="Messiaen, L., Riccardi, V., Peltonen, J., Maertens, O., Callens, T., Karvonen, S. L., Leisti, E.-L., Koivunen, J., Vandenbroucke, I., Stephens, K., Poyhonen, M. <strong>Independent NF1 mutations in two large families with spinal neurofibromatosis.</strong> J. Med. Genet. 40: 122-126, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566521</a>] [<a href="https://doi.org/10.1136/jmg.40.2.122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12566521">Messiaen et al. (2003)</a> identified a mutation in the NF1 gene (<a href="/entry/613113#0039">613113.0039</a>). In affected members of the family with spinal NF reported by <a href="#5" class="mim-tip-reference" title="Poyhonen, M., Leisti, E.-L., Kytola, S., Leisti, J. <strong>Hereditary spinal neurofibromatosis: a rare form of NF1?</strong> J. Med. Genet. 34: 184-187, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9132486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9132486</a>] [<a href="https://doi.org/10.1136/jmg.34.3.184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9132486">Poyhonen et al. (1997)</a>, <a href="#4" class="mim-tip-reference" title="Messiaen, L., Riccardi, V., Peltonen, J., Maertens, O., Callens, T., Karvonen, S. L., Leisti, E.-L., Koivunen, J., Vandenbroucke, I., Stephens, K., Poyhonen, M. <strong>Independent NF1 mutations in two large families with spinal neurofibromatosis.</strong> J. Med. Genet. 40: 122-126, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566521</a>] [<a href="https://doi.org/10.1136/jmg.40.2.122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12566521">Messiaen et al. (2003)</a> identified a mutation in the NF1 gene (<a href="/entry/613113#0038">613113.0038</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1745350+9132486+12566521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Ars1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ars, E., Kruyer, H., Gaona, A., Casquero, P., Rosell, J., Volpini, V., Serra, E., Lazaro, C., Estivill, X.
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<strong>A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.</strong>
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Am. J. Hum. Genet. 62: 834-841, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529361</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529361" 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/10.1086/301803" target="_blank">Full Text</a>]
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<a id="Burkitt Wright2013" class="mim-anchor"></a>
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Burkitt Wright, E. M. M., Sach, E., Sharif, S., Quarrell, O., Carroll, T., Whitehouse, R. W., Upadhyaya, M., Huson, S. M., Evans, D. G. R.
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<strong>Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.</strong>
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J. Med. Genet. 50: 606-613, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812910</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812910[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812910" 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/jmedgenet-2013-101648" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Kaufmann2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kaufmann, D., Muller, R., Bartelt, B., Wolf, M., Kunzi-Rapp, K., Hanemann, C. O., Fahsold, R., Hein, C., Vogel, W., Assum, G.
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<strong>Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene.</strong>
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Am. J. Hum. Genet. 69: 1395-1400, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11704931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11704931</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11704931[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11704931" 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/10.1086/324648" target="_blank">Full Text</a>]
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<a id="Messiaen2003" class="mim-anchor"></a>
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Messiaen, L., Riccardi, V., Peltonen, J., Maertens, O., Callens, T., Karvonen, S. L., Leisti, E.-L., Koivunen, J., Vandenbroucke, I., Stephens, K., Poyhonen, M.
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<strong>Independent NF1 mutations in two large families with spinal neurofibromatosis.</strong>
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J. Med. Genet. 40: 122-126, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566521</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12566521" 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/jmg.40.2.122" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Poyhonen1997" class="mim-anchor"></a>
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<p class="mim-text-font">
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Poyhonen, M., Leisti, E.-L., Kytola, S., Leisti, J.
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<strong>Hereditary spinal neurofibromatosis: a rare form of NF1?</strong>
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J. Med. Genet. 34: 184-187, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9132486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9132486</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9132486" 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/jmg.34.3.184" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Pulst1991" class="mim-anchor"></a>
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<p class="mim-text-font">
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Pulst, S.-M., Riccardi, V. M., Fain, P., Korenberg, J. R.
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<strong>Familial spinal neurofibromatosis: clinical and DNA linkage analysis.</strong>
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Neurology 41: 1923-1927, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1745350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1745350</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1745350" 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.41.12.1923" target="_blank">Full Text</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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Cassandra L. Kniffin - updated : 8/18/2014
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<span class="mim-text-font">
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Cassandra L. Kniffin - reorganized : 10/25/2004<br>Cassandra L. Kniffin - updated : 10/21/2004<br>Victor A. McKusick - updated : 1/11/2002
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Creation Date:
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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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Victor A. McKusick : 9/16/1992
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 06/29/2023
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<span class="mim-text-font">
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carol : 09/13/2016<br>carol : 01/13/2016<br>carol : 8/21/2014<br>mcolton : 8/19/2014<br>ckniffin : 8/18/2014<br>wwang : 5/23/2011<br>carol : 11/23/2009<br>carol : 11/23/2009<br>tkritzer : 10/25/2004<br>ckniffin : 10/21/2004<br>alopez : 1/11/2002<br>mimadm : 12/2/1994<br>carol : 10/26/1993<br>carol : 9/16/1992
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<span class="mim-font">
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<strong>#</strong> 162210
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<h3>
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NEUROFIBROMATOSIS, FAMILIAL SPINAL
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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FSNF
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1003465006;
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<strong>ORPHA:</strong> 636;
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<strong>DO:</strong> 0070482;
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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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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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</th>
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Gene/Locus
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<th>
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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17q11.2
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</td>
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<td>
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<span class="mim-font">
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Neurofibromatosis, familial spinal
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</td>
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<span class="mim-font">
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162210
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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NF1
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</td>
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<td>
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<span class="mim-font">
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613113
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because familial spinal neurofibromatosis is caused by heterozygous mutation in the neurofibromin gene (NF1; 613113) on chromosome 17q11.</p>
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<div>
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<br />
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<div>
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<h4>
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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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<p>Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; 162200), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013). </p>
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<strong>Clinical Features</strong>
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<p>Pulst et al. (1991) reported 2 families with spinal neurofibromatosis. The first family also had cafe-au-lait spots, whereas the second family had no cafe-au-lait spots. Other signs of neurofibromatosis I (NF1; 162200) or neurofibromatosis type II (NF2; see SWNV, 101000), such as cutaneous tumors, Lisch nodules, or acoustic tumors, were absent in both families. Genetic linkage analysis determined that the likely location for the mutation in the first family was in the NF1 gene (odds 97:1), whereas the mutation in the second family was excluded from the NF1 locus (odds greater than 100,000:1). </p><p>Poyhonen et al. (1997) described a family in which 7 members in 3 generations had spinal neurofibromatosis. The affected adults showed, at the ages of 32, 37, 38, and 61 years, respectively, multiple spinal neurofibromas symmetrically affecting all spinal roots. Two patients were operated on for histopathologically proven cervical spinal neurofibromas. All patients had cafe-au-lait spots, 1 had several freckles in the axillary area, and 2 had possible dermal neurofibromas, but iris Lisch nodules were not present. Other signs of neurofibromatosis type I and type II were absent. Several patients had lower extremity weakness. </p><p>Ars et al. (1998) reported a 3-generation family in which 5 members, all female, had spinal neurofibromatosis. All presented with multiple spinal neurofibromas and cafe-au-lait spots. The oldest affected patient was a 58-year-old woman who had developed progressive paraparesis of her legs and right arm at age 45 years. She had multiple cafe-au-lait spots, but no cutaneous neurofibromas. Her affected daughter was a 34-year-old woman who had surgery at 16 years of age to remove a mediastinal neurofibroma. She had multiple cafe-au-lait spots and 3 cutaneous neurofibromas. At age 23 years, she developed signs of progressive spastic paraparesis. Another 24-year-old daughter had multiple cafe-au-lait spots and a history of surgical resection of a plexiform neurofibroma on the right arm. Multiple intra- and extraspinal neurofibromas were demonstrated. A third woman in the second generation, aged 21 years, had multiple cafe-au-lait spots and Lisch nodules, as well as spinal tumors. An affected member of the third generation, a 12-year-old girl, had multiple cafe-au-lait spots and Lisch nodules. Spinal MRI showed multiple bilateral tumors from C2 to D4 and 2 paravertebral masses. </p><p>Kaufmann et al. (2001) reported 2 unrelated families with spinal neurofibromatosis but without cafe-au-lait macules. The 32-year-old proposita in the first family had an intrathoracic upper mediastinal tumor detected at age 17 years. Subsequent MRI examinations detected multiple tumors of the psoas muscle and cervical and lumbar spine. Two of the spinal tumors were surgically excised and identified as a schwannoma and neurofibroma. In addition, a subcutaneous neurofibroma and a subcutaneous schwannoma were excised. Tumors in the CNS typical of NF2 were not found. She had no cafe-au-lait macules, intertriginous freckling, or Lisch nodules. There were no signs of mental retardation or scoliosis. The 31-year-old proposita from the second family observed multiple painful intradermal tumors of the extremities and trunk at the age of 17 years, 1 of which was identified as a neurofibroma. Another tumor, identified histologically as a schwannoma, was excised from the thoracic spine at age 29 years. Multiple spinal tumors were identified by MRI scans in all segments of the spine, especially in C5/C6. Other symptoms typical of NF1, such as cafe-au-lait macules, freckles, Lisch nodules, scoliosis, or tumors of the CNS, were not found. The patient's mother had 2 lumbar hyperpigmentations and presented with acute lumbago. MRI scan showed enlarged spinal nerves in all segments of the spine. </p><p>Burkitt Wright et al. (2013) reported 5 families with spinal neurofibromatosis. Most of the probands presented with neurologic symptoms in adulthood and were found to have spinal tumors on imaging; they usually had no pigmentary features or subcutaneous neurofibromas. Affected family members were subsequently identified when screened by imaging and/or molecular studies. A range of mutations was found in the NF1 gene in these families, with no specific mutation type associated with the presentation. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of spinal neurofibromatosis in the families reported by Pulst et al. (1991) was consistent with autosomal dominant inheritance, with at least 1 instance of male-to-male transmission in each family. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Using genetic linkage analysis with DNA markers tightly linked to the NF1 and NF2 loci, Pulst et al. (1991) determined that the likely location for the mutation in a family with spinal neurofibromatosis and cafe-au-lait spots was in the NF1 gene with odds of 97:1, whereas the mutation in a second family, with spinal neurofibromatosis but without cafe-au-lait spots, was excluded from the NF1 locus with odds of more than 100,000:1. However, markers for the NF2 locus were uninformative in the unlinked family. </p><p>Linkage study of the affected family reported by Poyhonen et al. (1997) suggested close linkage to the NF1 locus and excluded linkage with the NF2 locus. DNA analysis of histopathologically verified spinal neurofibromas in 2 patients showed no evidence of loss of heterozygosity (LOH) at 17q11.2. Poyhonen et al. (1997) suggested that the disorder was a clinically distinct form of neurofibromatosis with extensive spinal involvement and cafe-au-lait macules which may be allelic to classic NF1. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a family with spinal neurofibromatosis, Ars et al. (1998) identified a frameshift mutation in the NF1 gene (613113.0018). </p><p>In affected members of 2 families with spinal neurofibromas but no cafe-au-lait macules, Kaufmann et al. (2001) identified 2 different mutations in the NF1 gene (613113.0028 and 613113.0029, respectively). Both NF1 mutations caused a reduction in neurofibromin of approximately 50%, with no truncated protein present in the cells. The findings demonstrated that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria for spinal NF. Kaufmann et al. (2001) suggested that the spinal NF phenotype may be caused by a modifying gene that partially compensates for the effects of neurofibromin deficiency. </p><p>In 4 affected members of the family with spinal NF and cafe-au-lait spots reported by Pulst et al. (1991), Messiaen et al. (2003) identified a mutation in the NF1 gene (613113.0039). In affected members of the family with spinal NF reported by Poyhonen et al. (1997), Messiaen et al. (2003) identified a mutation in the NF1 gene (613113.0038). </p>
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<strong>REFERENCES</strong>
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Ars, E., Kruyer, H., Gaona, A., Casquero, P., Rosell, J., Volpini, V., Serra, E., Lazaro, C., Estivill, X.
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<strong>A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.</strong>
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Am. J. Hum. Genet. 62: 834-841, 1998.
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[PubMed: 9529361]
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[Full Text: https://doi.org/10.1086/301803]
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Burkitt Wright, E. M. M., Sach, E., Sharif, S., Quarrell, O., Carroll, T., Whitehouse, R. W., Upadhyaya, M., Huson, S. M., Evans, D. G. R.
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<strong>Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.</strong>
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J. Med. Genet. 50: 606-613, 2013.
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[PubMed: 23812910]
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[Full Text: https://doi.org/10.1136/jmedgenet-2013-101648]
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Kaufmann, D., Muller, R., Bartelt, B., Wolf, M., Kunzi-Rapp, K., Hanemann, C. O., Fahsold, R., Hein, C., Vogel, W., Assum, G.
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<strong>Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene.</strong>
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Am. J. Hum. Genet. 69: 1395-1400, 2001.
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[PubMed: 11704931]
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[Full Text: https://doi.org/10.1086/324648]
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Messiaen, L., Riccardi, V., Peltonen, J., Maertens, O., Callens, T., Karvonen, S. L., Leisti, E.-L., Koivunen, J., Vandenbroucke, I., Stephens, K., Poyhonen, M.
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<strong>Independent NF1 mutations in two large families with spinal neurofibromatosis.</strong>
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J. Med. Genet. 40: 122-126, 2003.
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[PubMed: 12566521]
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[Full Text: https://doi.org/10.1136/jmg.40.2.122]
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Poyhonen, M., Leisti, E.-L., Kytola, S., Leisti, J.
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<strong>Hereditary spinal neurofibromatosis: a rare form of NF1?</strong>
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J. Med. Genet. 34: 184-187, 1997.
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[PubMed: 9132486]
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[Full Text: https://doi.org/10.1136/jmg.34.3.184]
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Pulst, S.-M., Riccardi, V. M., Fain, P., Korenberg, J. R.
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<strong>Familial spinal neurofibromatosis: clinical and DNA linkage analysis.</strong>
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Neurology 41: 1923-1927, 1991.
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[PubMed: 1745350]
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[Full Text: https://doi.org/10.1212/wnl.41.12.1923]
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Cassandra L. Kniffin - updated : 8/18/2014<br>Cassandra L. Kniffin - reorganized : 10/25/2004<br>Cassandra L. Kniffin - updated : 10/21/2004<br>Victor A. McKusick - updated : 1/11/2002
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Victor A. McKusick : 9/16/1992
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