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Entry
- #115430 - CARPAL TUNNEL SYNDROME 1; CTS1
- OMIM
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<span class="h4">#115430</span>
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<strong>Table of Contents</strong>
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<li role="presentation">
<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/115430"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS115430"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 57406009<br />
<strong>ICD10CM:</strong> G56.0, G56.00<br />
<strong>ICD9CM:</strong> 354.0<br />
<strong>ORPHA:</strong> 85447<br />
<strong>DO:</strong> 0070466<br />
">ICD+</a>
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
115430
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<h3>
<span class="mim-font">
CARPAL TUNNEL SYNDROME 1; CTS1
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Other entities represented in this entry:
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CARPAL TUNNEL SYNDROME, INCLUDED; CTS, INCLUDED
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<span class="h4 mim-font">
AMYOTROPHY, THENAR, OF CARPAL ORIGIN, INCLUDED
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
</th>
<th>
Phenotype <br /> mapping key
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Gene/Locus
</th>
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Gene/Locus <br /> MIM number
</th>
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<span class="mim-font">
<a href="/geneMap/18/119?start=-3&limit=10&highlight=119">
18q12.1
</a>
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<td>
<span class="mim-font">
Carpal tunnel syndrome, familial
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115430"> 115430 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TTR
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176300"> 176300 </a>
</span>
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<strong> INHERITANCE </strong>
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<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Thenar atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864715</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003393" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003393</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003393" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003393</a>]</span><br /> -
Amyloid deposits in synovial tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435509&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435509</a>]</span><br /> -
Amyloid deposits in transverse carpal ligament <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435510</a>]</span><br />
</span>
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<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Median nerve compression in carpal tunnel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246611002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246611002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551829</a>]</span><br /> -
Pain in thumb, index, and middle fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435504</a>]</span><br /> -
Paresthesias in thumb, index, and middle fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435505</a>]</span><br /> -
Numbness in thumb, index, and middle fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435506</a>]</span><br /> -
Absent motor response to electrical stimulation of median nerve <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435507</a>]</span><br /> -
Absent sensory response to electrical stimulation of median nerve <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435508</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Age of onset in sixth decade of life<br />
</span>
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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 transthyretin gene (TTR, <a href="/entry/176300#0033">176300.0033</a>)<br />
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<h5>
Carpal tunnel syndrome
- <a href="/phenotypicSeries/PS115430">PS115430</a>
- 2 Entries
</h5>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/119?start=-3&limit=10&highlight=119"> 18q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115430"> Carpal tunnel syndrome, familial </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115430"> 115430 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176300"> TTR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176300"> 176300 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/473?start=-3&limit=10&highlight=473"> 19p13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619161"> Carpal tunnel syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619161"> 619161 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600310"> COMP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600310"> 600310 </a>
</span>
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<p>A number sign (#) is used with this entry because of evidence that carpal tunnel syndrome-1 (CTS1) is caused by heterozygous mutation in the TTR gene (<a href="/entry/176300">176300</a>), which encodes transthyretin, on chromosome 18q12.</p>
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<p>Carpal tunnel syndrome-1 (CTS1) is characterized by hand pain and numbness in the distribution of the median nerve, with onset in the sixth decade of life. Amyloid deposits are observed in synovial tissue of the wrist and in the transverse carpal ligament (<a href="#15" class="mim-tip-reference" title="Murakami, T., Tachibana, S., Endo, Y., Kawai, R., Hara, M., Tanase, S., Ando, M. &lt;strong&gt;Familial carpal tunnel syndrome due to amyloidogenic transthyretin his-114 variant.&lt;/strong&gt; Neurology 44: 315-318, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8309582/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8309582&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.44.2.315&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8309582">Murakami et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8309582" 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>Genetic Heterogeneity of Carpal Tunnel Syndrome</em></strong></p><p>
CTS2 (<a href="/entry/619161">619161</a>) is caused by mutation in the COMP gene (<a href="/entry/600310">600310</a>) on chromosome 19p13.</p><p>Susceptibility to the development of mononeuropathy of the median (MNMN; <a href="/entry/613353">613353</a>) may be conferred by heterozygous mutation in the SH3TC2 gene (<a href="/entry/608206">608206</a>) on chromosome 5q32.</p><p>Carpal tunnel syndrome has been described as a feature in amyloid neuropathy (see <a href="/entry/176300">176300</a>) and in mucopolysaccharidoses (e.g., <a href="/entry/253200">253200</a>) and mucolipidoses (<a href="/entry/252600">252600</a>).</p>
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<p><a href="#15" class="mim-tip-reference" title="Murakami, T., Tachibana, S., Endo, Y., Kawai, R., Hara, M., Tanase, S., Ando, M. &lt;strong&gt;Familial carpal tunnel syndrome due to amyloidogenic transthyretin his-114 variant.&lt;/strong&gt; Neurology 44: 315-318, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8309582/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8309582&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.44.2.315&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8309582">Murakami et al. (1994)</a> studied a 68-year-old Japanese woman and her 67-year-old brother with carpal tunnel syndrome and mutation in the TTR gene. At the time of surgical carpal tunnel release, Congo-red stained biopsy material was obtained demonstrating the presence of amyloid. There were no other neurologic abnormalities, no orthostatic hypotension, no gastrointestinal problems or sphincter disturbances, and no vitreous opacities. The father, who had symptoms of carpal tunnel syndrome, died at the age of 76 of pneumonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8309582" 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>Reports of Carpal Tunnel Syndrome Without Known Mutations</em></strong></p><p>
<a href="#1" class="mim-tip-reference" title="Danta, G. &lt;strong&gt;Familial carpal tunnel syndrome with onset in childhood.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 38: 350-355, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1141922/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1141922&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp.38.4.350&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1141922">Danta (1975)</a> reported carpal tunnel syndrome (constrictive median neuropathy) in 4 persons in 3 generations with male-to-male transmission. Symptoms began in the first decade in father and son, and in both the median nerve at operation was found to be constricted under a thickened transverse carpal ligament. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1141922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gray, R. G., Poppo, M. J., Gottlieb, N. L. &lt;strong&gt;Primary familial bilateral carpal tunnel syndrome.&lt;/strong&gt; Ann. Intern. Med. 91: 37-40, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/464452/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;464452&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.7326/0003-4819-91-1-37&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="464452">Gray et al. (1979)</a> described bilateral carpal tunnel syndrome in 19 of 43 living members of a nonconsanguineous family, with male-to-male transmission. Sixty-three percent of the affected persons also had symptomatic digital flexor tenosynovitis, often polytendinous, which required surgery in 4. Age of onset was most often in the twenties but was at age 10 in 1 patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=464452" 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="Vallat, J. M., Dunoyer, J. &lt;strong&gt;Familial occurrence of entrapment neuropathies. (Letter)&lt;/strong&gt; Arch. Neurol. 36: 323 only, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/444109/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;444109&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1979.00500410101026&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="444109">Vallat and Dunoyer (1979)</a> reported carpal tunnel syndrome in father and daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=444109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Kishi, H., Kishi, T., Williams, R. H., Folkers, K. &lt;strong&gt;Human deficiencies of vitamin B6. I. Studies on parameters of the assay of the glutamic oxaloacetic transaminase by the CAS principle.&lt;/strong&gt; Res. Commun. Chem. Path. Pharm. 12: 557-569, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1197932/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1197932&lt;/a&gt;]" pmid="1197932">Kishi et al. (1975)</a> and <a href="#9" class="mim-tip-reference" title="Kishi, H., Folkers, K. &lt;strong&gt;Improved and effective assays of the glutamic oxaloacetic transaminase by the coenzyme-apoenzyme system (CAS) principle.&lt;/strong&gt; J. Nutr. Sci. Vitaminol. 22: 225-234, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/966077/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;966077&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3177/jnsv.22.225&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="966077">Kishi and Folkers (1976)</a> used the level of erythrocyte glutamic oxaloacetic transaminase (EGOT) as a measure of vitamin B6 deficiency. <a href="#2" class="mim-tip-reference" title="Ellis, J. M., Azuma, J., Watanabe, T., Folkers, K., Lowell, J. R., Hurst, G. A., Ahn, C. H., Shuford, E. H., Jr., Ulrich, R. F. &lt;strong&gt;Survey and new data on treatment with pyridoxine of patients having a clinical syndrome including the carpal tunnel and other defects.&lt;/strong&gt; Res. Commun. Chem. Path. Pharm. 17: 165-177, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/877401/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;877401&lt;/a&gt;]" pmid="877401">Ellis et al. (1977)</a> demonstrated severe deficiency of B6 in CTS. Administration of pyridoxine corrected the B6 deficiency and alleviated the neurologic disorder (<a href="#4" class="mim-tip-reference" title="Ellis, J. M., Folkers, K., Watanabe, T., Kaji, M., Saji, S., Caldwell, J. W., Temple, C. A., Wood, F. S. &lt;strong&gt;Clinical results of a cross-over treatment with pyridoxine and placebo of the carpal tunnel syndrome.&lt;/strong&gt; Am. J. Clin. Nutr. 32: 2040-2046, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/484522/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;484522&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/ajcn/32.10.2040&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="484522">Ellis et al., 1979</a>). Further documentation of the improvement, which may obviate surgery, was presented by <a href="#3" class="mim-tip-reference" title="Ellis, J. M., Folkers, K., Levy, M., Shizukuishi, S., Lewandowski, J., Nishii, S., Schubert, H. A., Ulrich, R. &lt;strong&gt;Response of vitamin B-6 deficiency and the carpal tunnel syndrome to pyridoxine.&lt;/strong&gt; Proc. Nat. Acad. Sci. 79: 7494-7498, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6961425/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6961425&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.79.23.7494&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6961425">Ellis et al. (1982)</a>. They concluded that, since K(m) values of EGOT were identical in patients with and without CTS but with identical specific activities, CTS is a primary deficiency of B6, not a dependency state. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6961425+1197932+966077+877401+484522" 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="#17" class="mim-tip-reference" title="Serratrice, G., Roger, J., Guastalla, B., Saint-Jean, J. C. &lt;strong&gt;Amyotrophies thenariennes familiales d&#x27;origine carpienne.&lt;/strong&gt; Rev. Neurol. 141: 746-749, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4089404/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4089404&lt;/a&gt;]" pmid="4089404">Serratrice et al. (1985)</a> described familial occurrence and onset at an early age (before 12 years) especially in the right hand (see also <a href="#11" class="mim-tip-reference" title="Lettin, A. W. F. &lt;strong&gt;Carpal tunnel syndrome in childhood: report of a case.&lt;/strong&gt; J. Bone Joint Surg. Br. 47: 556-559, 1965.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14341079/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14341079&lt;/a&gt;]" pmid="14341079">Lettin, 1965</a>). <a href="#13" class="mim-tip-reference" title="McDonnell, J. M., Makley, J. T., Horwitz, S. J. &lt;strong&gt;Familial carpal-tunnel syndrome presenting in childhood: report of two cases.&lt;/strong&gt; J. Bone Joint Surg. Am. 69: 928-930, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3597507/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3597507&lt;/a&gt;]" pmid="3597507">McDonnell et al. (1987)</a> described 5 definite and 3 possible cases of carpal tunnel syndrome in 3 generations of a family. A remarkable feature was the development of symptoms as early as age 4 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4089404+3597507+14341079" 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="#21" class="mim-tip-reference" title="Swoboda, K. J., Engle, E. C., Scheindlin, B., Anthony, D. C., Jones, H. R. &lt;strong&gt;Mutilating hand syndrome in an infant with familial carpal tunnel syndrome.&lt;/strong&gt; Muscle Nerve. 21: 104-111, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9427229/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9427229&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1097-4598(199801)21:1&lt;104::aid-mus13&gt;3.0.co;2-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9427229">Swoboda et al. (1998)</a> described the case of a 7-month-old son of consanguineous Indian parents who presented with the recurrent chewing of his fingers in a median nerve distribution as the primary manifestation of carpal tunnel syndrome, in conjunction with features consistent with congenital insensitivity to pain. Electromyography (EMG) demonstrated severe median nerve entrapment at the wrist bilaterally, but other nerves were normal. In spite of clinical evidence of diffuse pain insensitivity, sural nerve and skin biopsies were normal, and he had no evidence of autonomic dysfunction. Hand findings evolved with scarring and infection of median innervated digits and loss of fine motor skills. Carpal tunnel release resulted in complete clinical resolution and significant EMG improvement. Milder symptoms and EMG evidence of median nerve entrapment were demonstrated in both parents, paternal grandparents, and several of his father's sibs. <a href="#21" class="mim-tip-reference" title="Swoboda, K. J., Engle, E. C., Scheindlin, B., Anthony, D. C., Jones, H. R. &lt;strong&gt;Mutilating hand syndrome in an infant with familial carpal tunnel syndrome.&lt;/strong&gt; Muscle Nerve. 21: 104-111, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9427229/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9427229&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1097-4598(199801)21:1&lt;104::aid-mus13&gt;3.0.co;2-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9427229">Swoboda et al. (1998)</a> suggested that the child was homozygous for a mutant allele that in its heterozygous state predisposed to familial autosomal dominant carpal tunnel syndrome. Homozygosity for this or another mutant allele may have been responsible for his congenital insensitivity to pain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9427229" 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="#20" class="mim-tip-reference" title="Stoll, C., Maitrot, D. &lt;strong&gt;Autosomal dominant carpal tunnel syndrome.&lt;/strong&gt; Clin. Genet. 54: 345-348, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9831348/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9831348&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.1998.5440414.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9831348">Stoll and Maitrot (1998)</a> studied the family of an otherwise healthy 35-year-old woman with carpal tunnel syndrome and found that 7 other members of the family in 4 generations were affected. Only 2 of the 8 were male. None of the secondary causes of carpal tunnel syndrome, such as amyloidosis, were found in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9831348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Gossett, J. G., Chance, P. F. &lt;strong&gt;Is there a familial carpal tunnel syndrome? An evaluation and literature review.&lt;/strong&gt; Muscle Nerve 21: 1533-1536, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9771681/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9771681&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1097-4598(199811)21:11&lt;1533::aid-mus25&gt;3.0.co;2-#&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9771681">Gossett and Chance (1998)</a> reviewed reports of families with familial carpal tunnel syndrome and the guidelines used for the diagnosis. They identified 7 new 'potential' familial CTS pedigrees on the basis of their having 4 or more members with symptoms. In all but 2 pedigrees, however, an explanation other than familial CTS was found. <a href="#6" class="mim-tip-reference" title="Gossett, J. G., Chance, P. F. &lt;strong&gt;Is there a familial carpal tunnel syndrome? An evaluation and literature review.&lt;/strong&gt; Muscle Nerve 21: 1533-1536, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9771681/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9771681&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1097-4598(199811)21:11&lt;1533::aid-mus25&gt;3.0.co;2-#&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9771681">Gossett and Chance (1998)</a> concluded that familial isolated CTS is a rare but genetically distinct disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771681" 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>
</span>
<div>
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</div>
</div>
<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Inheritance</strong>
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<p>The transmission pattern of CTS1 in the family reported by <a href="#15" class="mim-tip-reference" title="Murakami, T., Tachibana, S., Endo, Y., Kawai, R., Hara, M., Tanase, S., Ando, M. &lt;strong&gt;Familial carpal tunnel syndrome due to amyloidogenic transthyretin his-114 variant.&lt;/strong&gt; Neurology 44: 315-318, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8309582/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8309582&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.44.2.315&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8309582">Murakami et al. (1994)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8309582" 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>
</span>
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</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Mapping</strong>
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<span class="mim-text-font">
<p>Carpal tunnel syndrome-1 is caused by mutation in the TTR gene, which maps to chromosome 18q12.</p><p><strong><em>Exclusion Studies</em></strong></p><p>
<a href="#18" class="mim-tip-reference" title="Sparkes, R. S., Spence, M. A., Gottlieb, N. L., Gray, R. G., Crist, M., Sparkes, M. C., Marazita, M. &lt;strong&gt;Genetic linkage analysis of the carpal tunnel syndrome.&lt;/strong&gt; Hum. Hered. 35: 288-291, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4043979/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4043979&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000153564&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4043979">Sparkes et al. (1985)</a> found no linkage between idiopathic carpal tunnel syndrome and 20 informative markers. For 8 of these, linkage was excluded by a lod score less than 2.0. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4043979" 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>
</span>
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</div>
</div>
<div>
<a id="cytogenetics" class="mim-anchor"></a>
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Cytogenetics</strong>
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<p>There are conditions that mimic the symptoms of CTS or predispose people to develop it. One such condition is hereditary neuropathy with liability to pressure palsies (HNNP; <a href="/entry/162500">162500</a>). This disorder most frequently manifests initially as a peripheral nerve entrapment, including median nerve compression at the carpal canal with delayed nerve conduction velocities. <a href="#16" 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. &lt;strong&gt;DNA rearrangements on both homologues of chromosome on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 64: 471-478, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9973284/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9973284&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302240&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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. HNPP is probably underdiagnosed because it typically has episodic and transient clinical manifestations. <a href="#19" 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. &lt;strong&gt;Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.&lt;/strong&gt; Arch. Neurol. 58: 1635-1637, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11594922/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11594922&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.58.10.1635&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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=9973284+11594922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</div>
<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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<p>In 2 sibs from a Japanese family with carpal tunnel syndrome, <a href="#15" class="mim-tip-reference" title="Murakami, T., Tachibana, S., Endo, Y., Kawai, R., Hara, M., Tanase, S., Ando, M. &lt;strong&gt;Familial carpal tunnel syndrome due to amyloidogenic transthyretin his-114 variant.&lt;/strong&gt; Neurology 44: 315-318, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8309582/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8309582&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.44.2.315&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8309582">Murakami et al. (1994)</a> identified a heterozygous tyr114-to-his substitution in the TTR gene (Y114H; <a href="/entry/176300#0033">176300.0033</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8309582" 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>Exclusion Studies</em></strong></p><p>
<a href="#5" class="mim-tip-reference" title="Elstner, M., Bettecken, T., Wasner, M., Anneser, F., Dichgans, M., Meitinger, T., Gasser, T., Klopstock, T. &lt;strong&gt;Familial carpal tunnel syndrome: further evidence for a genetic contribution. (Letter)&lt;/strong&gt; Clin. Genet. 69: 179-182, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16433699/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16433699&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2006.00555.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16433699">Elstner et al. (2006)</a> reported a large family in which 9 members over 3 generations had bilateral carpal tunnel syndrome. The pedigree was compatible with autosomal dominant inheritance, but there was some evidence for an X-linked dominant transmission that was lethal in the hemizygous male: there was an almost exclusive occurrence of CTS in females, a preponderance of female to male offspring, and several male miscarriages. The affected matriarch had 6 sisters, no brother, 5 daughters, and 2 male miscarriages. The phenotype in this pedigree was consistent with anticipation, since the onset of CTS was approximately 20 years earlier in the third generation than in the second. <a href="#5" class="mim-tip-reference" title="Elstner, M., Bettecken, T., Wasner, M., Anneser, F., Dichgans, M., Meitinger, T., Gasser, T., Klopstock, T. &lt;strong&gt;Familial carpal tunnel syndrome: further evidence for a genetic contribution. (Letter)&lt;/strong&gt; Clin. Genet. 69: 179-182, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16433699/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16433699&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2006.00555.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16433699">Elstner et al. (2006)</a> analyzed the peripheral myelin protein-22 (PMP22; <a href="/entry/601097">601097</a>) and transthyretin (TTR; <a href="/entry/176300">176300</a>) genes but found no alterations in affected family members, and linkage to the connexin-32 (GJB1; <a href="/entry/304040">304040</a>) locus was excluded by haplotype analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16433699" 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>
</span>
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<br />
</div>
</div>
</div>
<div>
<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Hess1969" class="mim-tip-reference" title="Hess, H., Baumann, F. &lt;strong&gt;Ueber das familiaere Vorkommen eines Karpaltunnelsyndroms.&lt;/strong&gt; Ztschr. Orthop. Grenzgebiete 106: 565-569, 1969.">Hess and Baumann (1969)</a>; <a href="#McArthur1969" class="mim-tip-reference" title="McArthur, R. G., Hayles, A. B., Gomez, M. R., Bianco, A. J., Jr. &lt;strong&gt;Carpal tunnel syndrome and trigger finger in childhood.&lt;/strong&gt; Am. J. Dis. Child. 117: 463-469, 1969.">McArthur et al. (1969)</a>; <a href="#Mochizuki1981" class="mim-tip-reference" title="Mochizuki, Y., Ohkubo, H., Motomura, T. &lt;strong&gt;Familial bilateral carpal tunnel syndrome. (Letter)&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 44: 367 only, 1981.">Mochizuki et al.
(1981)</a>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Danta1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Danta, G.
<strong>Familial carpal tunnel syndrome with onset in childhood.</strong>
J. Neurol. Neurosurg. Psychiat. 38: 350-355, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1141922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1141922</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1141922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jnnp.38.4.350" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Ellis1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ellis, J. M., Azuma, J., Watanabe, T., Folkers, K., Lowell, J. R., Hurst, G. A., Ahn, C. H., Shuford, E. H., Jr., Ulrich, R. F.
<strong>Survey and new data on treatment with pyridoxine of patients having a clinical syndrome including the carpal tunnel and other defects.</strong>
Res. Commun. Chem. Path. Pharm. 17: 165-177, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/877401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">877401</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=877401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Ellis1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ellis, J. M., Folkers, K., Levy, M., Shizukuishi, S., Lewandowski, J., Nishii, S., Schubert, H. A., Ulrich, R.
<strong>Response of vitamin B-6 deficiency and the carpal tunnel syndrome to pyridoxine.</strong>
Proc. Nat. Acad. Sci. 79: 7494-7498, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6961425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6961425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6961425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.79.23.7494" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Ellis1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ellis, J. M., Folkers, K., Watanabe, T., Kaji, M., Saji, S., Caldwell, J. W., Temple, C. A., Wood, F. S.
<strong>Clinical results of a cross-over treatment with pyridoxine and placebo of the carpal tunnel syndrome.</strong>
Am. J. Clin. Nutr. 32: 2040-2046, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/484522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">484522</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=484522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/ajcn/32.10.2040" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Elstner2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Elstner, M., Bettecken, T., Wasner, M., Anneser, F., Dichgans, M., Meitinger, T., Gasser, T., Klopstock, T.
<strong>Familial carpal tunnel syndrome: further evidence for a genetic contribution. (Letter)</strong>
Clin. Genet. 69: 179-182, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16433699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16433699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16433699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2006.00555.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Gossett1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gossett, J. G., Chance, P. F.
<strong>Is there a familial carpal tunnel syndrome? An evaluation and literature review.</strong>
Muscle Nerve 21: 1533-1536, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1097-4598(199811)21:11&lt;1533::aid-mus25&gt;3.0.co;2-#" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Gray1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gray, R. G., Poppo, M. J., Gottlieb, N. L.
<strong>Primary familial bilateral carpal tunnel syndrome.</strong>
Ann. Intern. Med. 91: 37-40, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/464452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">464452</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=464452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.7326/0003-4819-91-1-37" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Hess1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hess, H., Baumann, F.
<strong>Ueber das familiaere Vorkommen eines Karpaltunnelsyndroms.</strong>
Ztschr. Orthop. Grenzgebiete 106: 565-569, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4242691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4242691</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4242691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Kishi1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kishi, H., Folkers, K.
<strong>Improved and effective assays of the glutamic oxaloacetic transaminase by the coenzyme-apoenzyme system (CAS) principle.</strong>
J. Nutr. Sci. Vitaminol. 22: 225-234, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/966077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">966077</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=966077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3177/jnsv.22.225" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Kishi1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kishi, H., Kishi, T., Williams, R. H., Folkers, K.
<strong>Human deficiencies of vitamin B6. I. Studies on parameters of the assay of the glutamic oxaloacetic transaminase by the CAS principle.</strong>
Res. Commun. Chem. Path. Pharm. 12: 557-569, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1197932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1197932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1197932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<a id="11" class="mim-anchor"></a>
<a id="Lettin1965" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lettin, A. W. F.
<strong>Carpal tunnel syndrome in childhood: report of a case.</strong>
J. Bone Joint Surg. Br. 47: 556-559, 1965.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14341079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14341079</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14341079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<a id="12" class="mim-anchor"></a>
<a id="McArthur1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McArthur, R. G., Hayles, A. B., Gomez, M. R., Bianco, A. J., Jr.
<strong>Carpal tunnel syndrome and trigger finger in childhood.</strong>
Am. J. Dis. Child. 117: 463-469, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5773417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5773417</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5773417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1969.02100030465015" target="_blank">Full Text</a>]
</p>
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<a id="McDonnell1987" class="mim-anchor"></a>
<div class="">
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McDonnell, J. M., Makley, J. T., Horwitz, S. J.
<strong>Familial carpal-tunnel syndrome presenting in childhood: report of two cases.</strong>
J. Bone Joint Surg. Am. 69: 928-930, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3597507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3597507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3597507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Mochizuki1981" class="mim-anchor"></a>
<div class="">
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Mochizuki, Y., Ohkubo, H., Motomura, T.
<strong>Familial bilateral carpal tunnel syndrome. (Letter)</strong>
J. Neurol. Neurosurg. Psychiat. 44: 367 only, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7241167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7241167</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7241167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jnnp.44.4.367" target="_blank">Full Text</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Murakami1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Murakami, T., Tachibana, S., Endo, Y., Kawai, R., Hara, M., Tanase, S., Ando, M.
<strong>Familial carpal tunnel syndrome due to amyloidogenic transthyretin his-114 variant.</strong>
Neurology 44: 315-318, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8309582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8309582</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8309582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.44.2.315" target="_blank">Full Text</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Potocki1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
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 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://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9973284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302240" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
<a id="Serratrice1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Serratrice, G., Roger, J., Guastalla, B., Saint-Jean, J. C.
<strong>Amyotrophies thenariennes familiales d'origine carpienne.</strong>
Rev. Neurol. 141: 746-749, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4089404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4089404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4089404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="18" class="mim-anchor"></a>
<a id="Sparkes1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sparkes, R. S., Spence, M. A., Gottlieb, N. L., Gray, R. G., Crist, M., Sparkes, M. C., Marazita, M.
<strong>Genetic linkage analysis of the carpal tunnel syndrome.</strong>
Hum. Hered. 35: 288-291, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4043979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4043979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4043979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000153564" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
<a id="Stockton2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
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://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>]
[<a href="https://doi.org/10.1001/archneur.58.10.1635" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
<a id="Stoll1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stoll, C., Maitrot, D.
<strong>Autosomal dominant carpal tunnel syndrome.</strong>
Clin. Genet. 54: 345-348, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9831348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9831348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9831348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1034/j.1399-0004.1998.5440414.x" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
<a id="Swoboda1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Swoboda, K. J., Engle, E. C., Scheindlin, B., Anthony, D. C., Jones, H. R.
<strong>Mutilating hand syndrome in an infant with familial carpal tunnel syndrome.</strong>
Muscle Nerve. 21: 104-111, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9427229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9427229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9427229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1097-4598(199801)21:1&lt;104::aid-mus13&gt;3.0.co;2-3" target="_blank">Full Text</a>]
</p>
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<a id="22" class="mim-anchor"></a>
<a id="Vallat1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vallat, J. M., Dunoyer, J.
<strong>Familial occurrence of entrapment neuropathies. (Letter)</strong>
Arch. Neurol. 36: 323 only, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/444109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">444109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=444109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archneur.1979.00500410101026" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 01/19/2021
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Marla J. F. O'Neill - updated : 3/20/2006<br>Victor A. McKusick - updated : 8/9/2002<br>Victor A. McKusick - updated : 1/7/2000<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - updated : 4/15/1998
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Victor A. McKusick : 6/23/1986
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alopez : 06/13/2024
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carol : 07/14/2023<br>carol : 07/13/2023<br>alopez : 01/19/2021<br>carol : 05/25/2016<br>carol : 5/25/2016<br>terry : 1/13/2011<br>wwang : 4/14/2010<br>ckniffin : 4/13/2010<br>alopez : 2/15/2010<br>wwang : 3/21/2006<br>terry : 3/20/2006<br>mgross : 3/17/2004<br>terry : 11/22/2002<br>tkritzer : 8/16/2002<br>tkritzer : 8/14/2002<br>terry : 8/9/2002<br>carol : 1/24/2000<br>terry : 1/7/2000<br>carol : 1/26/1999<br>carol : 4/20/1998<br>terry : 4/15/1998<br>alopez : 3/13/1998<br>carol : 6/23/1997<br>mimadm : 6/25/1994<br>carol : 4/14/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>supermim : 1/20/1990<br>ddp : 10/26/1989
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<h3>
<span class="mim-font">
<strong>#</strong> 115430
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<span class="mim-font">
CARPAL TUNNEL SYNDROME 1; CTS1
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<span class="mim-font">
Other entities represented in this entry:
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<span class="h3 mim-font">
CARPAL TUNNEL SYNDROME, INCLUDED; CTS, INCLUDED
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AMYOTROPHY, THENAR, OF CARPAL ORIGIN, INCLUDED
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<strong>SNOMEDCT:</strong> 57406009; &nbsp;
<strong>ICD10CM:</strong> G56.0, G56.00; &nbsp;
<strong>ICD9CM:</strong> 354.0; &nbsp;
<strong>ORPHA:</strong> 85447; &nbsp;
<strong>DO:</strong> 0070466; &nbsp;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
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<th>
Gene/Locus <br /> MIM number
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<td>
<span class="mim-font">
18q12.1
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</td>
<td>
<span class="mim-font">
Carpal tunnel syndrome, familial
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<td>
<span class="mim-font">
115430
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<span class="mim-font">
Autosomal dominant
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<td>
<span class="mim-font">
3
</span>
</td>
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<span class="mim-font">
TTR
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<td>
<span class="mim-font">
176300
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<span class="mim-font">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that carpal tunnel syndrome-1 (CTS1) is caused by heterozygous mutation in the TTR gene (176300), which encodes transthyretin, on chromosome 18q12.</p>
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<span class="mim-font">
<strong>Description</strong>
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<span class="mim-text-font">
<p>Carpal tunnel syndrome-1 (CTS1) is characterized by hand pain and numbness in the distribution of the median nerve, with onset in the sixth decade of life. Amyloid deposits are observed in synovial tissue of the wrist and in the transverse carpal ligament (Murakami et al., 1994). </p><p><strong><em>Genetic Heterogeneity of Carpal Tunnel Syndrome</em></strong></p><p>
CTS2 (619161) is caused by mutation in the COMP gene (600310) on chromosome 19p13.</p><p>Susceptibility to the development of mononeuropathy of the median (MNMN; 613353) may be conferred by heterozygous mutation in the SH3TC2 gene (608206) on chromosome 5q32.</p><p>Carpal tunnel syndrome has been described as a feature in amyloid neuropathy (see 176300) and in mucopolysaccharidoses (e.g., 253200) and mucolipidoses (252600).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Murakami et al. (1994) studied a 68-year-old Japanese woman and her 67-year-old brother with carpal tunnel syndrome and mutation in the TTR gene. At the time of surgical carpal tunnel release, Congo-red stained biopsy material was obtained demonstrating the presence of amyloid. There were no other neurologic abnormalities, no orthostatic hypotension, no gastrointestinal problems or sphincter disturbances, and no vitreous opacities. The father, who had symptoms of carpal tunnel syndrome, died at the age of 76 of pneumonia. </p><p><strong><em>Reports of Carpal Tunnel Syndrome Without Known Mutations</em></strong></p><p>
Danta (1975) reported carpal tunnel syndrome (constrictive median neuropathy) in 4 persons in 3 generations with male-to-male transmission. Symptoms began in the first decade in father and son, and in both the median nerve at operation was found to be constricted under a thickened transverse carpal ligament. </p><p>Gray et al. (1979) described bilateral carpal tunnel syndrome in 19 of 43 living members of a nonconsanguineous family, with male-to-male transmission. Sixty-three percent of the affected persons also had symptomatic digital flexor tenosynovitis, often polytendinous, which required surgery in 4. Age of onset was most often in the twenties but was at age 10 in 1 patient. </p><p>Vallat and Dunoyer (1979) reported carpal tunnel syndrome in father and daughter. </p><p>Kishi et al. (1975) and Kishi and Folkers (1976) used the level of erythrocyte glutamic oxaloacetic transaminase (EGOT) as a measure of vitamin B6 deficiency. Ellis et al. (1977) demonstrated severe deficiency of B6 in CTS. Administration of pyridoxine corrected the B6 deficiency and alleviated the neurologic disorder (Ellis et al., 1979). Further documentation of the improvement, which may obviate surgery, was presented by Ellis et al. (1982). They concluded that, since K(m) values of EGOT were identical in patients with and without CTS but with identical specific activities, CTS is a primary deficiency of B6, not a dependency state. </p><p>Serratrice et al. (1985) described familial occurrence and onset at an early age (before 12 years) especially in the right hand (see also Lettin, 1965). McDonnell et al. (1987) described 5 definite and 3 possible cases of carpal tunnel syndrome in 3 generations of a family. A remarkable feature was the development of symptoms as early as age 4 years. </p><p>Swoboda et al. (1998) described the case of a 7-month-old son of consanguineous Indian parents who presented with the recurrent chewing of his fingers in a median nerve distribution as the primary manifestation of carpal tunnel syndrome, in conjunction with features consistent with congenital insensitivity to pain. Electromyography (EMG) demonstrated severe median nerve entrapment at the wrist bilaterally, but other nerves were normal. In spite of clinical evidence of diffuse pain insensitivity, sural nerve and skin biopsies were normal, and he had no evidence of autonomic dysfunction. Hand findings evolved with scarring and infection of median innervated digits and loss of fine motor skills. Carpal tunnel release resulted in complete clinical resolution and significant EMG improvement. Milder symptoms and EMG evidence of median nerve entrapment were demonstrated in both parents, paternal grandparents, and several of his father's sibs. Swoboda et al. (1998) suggested that the child was homozygous for a mutant allele that in its heterozygous state predisposed to familial autosomal dominant carpal tunnel syndrome. Homozygosity for this or another mutant allele may have been responsible for his congenital insensitivity to pain. </p><p>Stoll and Maitrot (1998) studied the family of an otherwise healthy 35-year-old woman with carpal tunnel syndrome and found that 7 other members of the family in 4 generations were affected. Only 2 of the 8 were male. None of the secondary causes of carpal tunnel syndrome, such as amyloidosis, were found in the family. </p><p>Gossett and Chance (1998) reviewed reports of families with familial carpal tunnel syndrome and the guidelines used for the diagnosis. They identified 7 new 'potential' familial CTS pedigrees on the basis of their having 4 or more members with symptoms. In all but 2 pedigrees, however, an explanation other than familial CTS was found. Gossett and Chance (1998) concluded that familial isolated CTS is a rare but genetically distinct disorder. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of CTS1 in the family reported by Murakami et al. (1994) was consistent with autosomal dominant inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Carpal tunnel syndrome-1 is caused by mutation in the TTR gene, which maps to chromosome 18q12.</p><p><strong><em>Exclusion Studies</em></strong></p><p>
Sparkes et al. (1985) found no linkage between idiopathic carpal tunnel syndrome and 20 informative markers. For 8 of these, linkage was excluded by a lod score less than 2.0. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>There are conditions that mimic the symptoms of CTS or predispose people to develop it. One such condition is hereditary neuropathy with liability to pressure palsies (HNNP; 162500). This disorder 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. 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>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 2 sibs from a Japanese family with carpal tunnel syndrome, Murakami et al. (1994) identified a heterozygous tyr114-to-his substitution in the TTR gene (Y114H; 176300.0033). </p><p><strong><em>Exclusion Studies</em></strong></p><p>
Elstner et al. (2006) reported a large family in which 9 members over 3 generations had bilateral carpal tunnel syndrome. The pedigree was compatible with autosomal dominant inheritance, but there was some evidence for an X-linked dominant transmission that was lethal in the hemizygous male: there was an almost exclusive occurrence of CTS in females, a preponderance of female to male offspring, and several male miscarriages. The affected matriarch had 6 sisters, no brother, 5 daughters, and 2 male miscarriages. The phenotype in this pedigree was consistent with anticipation, since the onset of CTS was approximately 20 years earlier in the third generation than in the second. Elstner et al. (2006) analyzed the peripheral myelin protein-22 (PMP22; 601097) and transthyretin (TTR; 176300) genes but found no alterations in affected family members, and linkage to the connexin-32 (GJB1; 304040) locus was excluded by haplotype analysis. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Hess and Baumann (1969); McArthur et al. (1969); Mochizuki et al.
(1981)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Danta, G.
<strong>Familial carpal tunnel syndrome with onset in childhood.</strong>
J. Neurol. Neurosurg. Psychiat. 38: 350-355, 1975.
[PubMed: 1141922]
[Full Text: https://doi.org/10.1136/jnnp.38.4.350]
</p>
</li>
<li>
<p class="mim-text-font">
Ellis, J. M., Azuma, J., Watanabe, T., Folkers, K., Lowell, J. R., Hurst, G. A., Ahn, C. H., Shuford, E. H., Jr., Ulrich, R. F.
<strong>Survey and new data on treatment with pyridoxine of patients having a clinical syndrome including the carpal tunnel and other defects.</strong>
Res. Commun. Chem. Path. Pharm. 17: 165-177, 1977.
[PubMed: 877401]
</p>
</li>
<li>
<p class="mim-text-font">
Ellis, J. M., Folkers, K., Levy, M., Shizukuishi, S., Lewandowski, J., Nishii, S., Schubert, H. A., Ulrich, R.
<strong>Response of vitamin B-6 deficiency and the carpal tunnel syndrome to pyridoxine.</strong>
Proc. Nat. Acad. Sci. 79: 7494-7498, 1982.
[PubMed: 6961425]
[Full Text: https://doi.org/10.1073/pnas.79.23.7494]
</p>
</li>
<li>
<p class="mim-text-font">
Ellis, J. M., Folkers, K., Watanabe, T., Kaji, M., Saji, S., Caldwell, J. W., Temple, C. A., Wood, F. S.
<strong>Clinical results of a cross-over treatment with pyridoxine and placebo of the carpal tunnel syndrome.</strong>
Am. J. Clin. Nutr. 32: 2040-2046, 1979.
[PubMed: 484522]
[Full Text: https://doi.org/10.1093/ajcn/32.10.2040]
</p>
</li>
<li>
<p class="mim-text-font">
Elstner, M., Bettecken, T., Wasner, M., Anneser, F., Dichgans, M., Meitinger, T., Gasser, T., Klopstock, T.
<strong>Familial carpal tunnel syndrome: further evidence for a genetic contribution. (Letter)</strong>
Clin. Genet. 69: 179-182, 2006.
[PubMed: 16433699]
[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00555.x]
</p>
</li>
<li>
<p class="mim-text-font">
Gossett, J. G., Chance, P. F.
<strong>Is there a familial carpal tunnel syndrome? An evaluation and literature review.</strong>
Muscle Nerve 21: 1533-1536, 1998.
[PubMed: 9771681]
[Full Text: https://doi.org/10.1002/(sici)1097-4598(199811)21:11&lt;1533::aid-mus25&gt;3.0.co;2-#]
</p>
</li>
<li>
<p class="mim-text-font">
Gray, R. G., Poppo, M. J., Gottlieb, N. L.
<strong>Primary familial bilateral carpal tunnel syndrome.</strong>
Ann. Intern. Med. 91: 37-40, 1979.
[PubMed: 464452]
[Full Text: https://doi.org/10.7326/0003-4819-91-1-37]
</p>
</li>
<li>
<p class="mim-text-font">
Hess, H., Baumann, F.
<strong>Ueber das familiaere Vorkommen eines Karpaltunnelsyndroms.</strong>
Ztschr. Orthop. Grenzgebiete 106: 565-569, 1969.
[PubMed: 4242691]
</p>
</li>
<li>
<p class="mim-text-font">
Kishi, H., Folkers, K.
<strong>Improved and effective assays of the glutamic oxaloacetic transaminase by the coenzyme-apoenzyme system (CAS) principle.</strong>
J. Nutr. Sci. Vitaminol. 22: 225-234, 1976.
[PubMed: 966077]
[Full Text: https://doi.org/10.3177/jnsv.22.225]
</p>
</li>
<li>
<p class="mim-text-font">
Kishi, H., Kishi, T., Williams, R. H., Folkers, K.
<strong>Human deficiencies of vitamin B6. I. Studies on parameters of the assay of the glutamic oxaloacetic transaminase by the CAS principle.</strong>
Res. Commun. Chem. Path. Pharm. 12: 557-569, 1975.
[PubMed: 1197932]
</p>
</li>
<li>
<p class="mim-text-font">
Lettin, A. W. F.
<strong>Carpal tunnel syndrome in childhood: report of a case.</strong>
J. Bone Joint Surg. Br. 47: 556-559, 1965.
[PubMed: 14341079]
</p>
</li>
<li>
<p class="mim-text-font">
McArthur, R. G., Hayles, A. B., Gomez, M. R., Bianco, A. J., Jr.
<strong>Carpal tunnel syndrome and trigger finger in childhood.</strong>
Am. J. Dis. Child. 117: 463-469, 1969.
[PubMed: 5773417]
[Full Text: https://doi.org/10.1001/archpedi.1969.02100030465015]
</p>
</li>
<li>
<p class="mim-text-font">
McDonnell, J. M., Makley, J. T., Horwitz, S. J.
<strong>Familial carpal-tunnel syndrome presenting in childhood: report of two cases.</strong>
J. Bone Joint Surg. Am. 69: 928-930, 1987.
[PubMed: 3597507]
</p>
</li>
<li>
<p class="mim-text-font">
Mochizuki, Y., Ohkubo, H., Motomura, T.
<strong>Familial bilateral carpal tunnel syndrome. (Letter)</strong>
J. Neurol. Neurosurg. Psychiat. 44: 367 only, 1981.
[PubMed: 7241167]
[Full Text: https://doi.org/10.1136/jnnp.44.4.367]
</p>
</li>
<li>
<p class="mim-text-font">
Murakami, T., Tachibana, S., Endo, Y., Kawai, R., Hara, M., Tanase, S., Ando, M.
<strong>Familial carpal tunnel syndrome due to amyloidogenic transthyretin his-114 variant.</strong>
Neurology 44: 315-318, 1994.
[PubMed: 8309582]
[Full Text: https://doi.org/10.1212/wnl.44.2.315]
</p>
</li>
<li>
<p class="mim-text-font">
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 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: 9973284]
[Full Text: https://doi.org/10.1086/302240]
</p>
</li>
<li>
<p class="mim-text-font">
Serratrice, G., Roger, J., Guastalla, B., Saint-Jean, J. C.
<strong>Amyotrophies thenariennes familiales d&#x27;origine carpienne.</strong>
Rev. Neurol. 141: 746-749, 1985.
[PubMed: 4089404]
</p>
</li>
<li>
<p class="mim-text-font">
Sparkes, R. S., Spence, M. A., Gottlieb, N. L., Gray, R. G., Crist, M., Sparkes, M. C., Marazita, M.
<strong>Genetic linkage analysis of the carpal tunnel syndrome.</strong>
Hum. Hered. 35: 288-291, 1985.
[PubMed: 4043979]
[Full Text: https://doi.org/10.1159/000153564]
</p>
</li>
<li>
<p class="mim-text-font">
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: 11594922]
[Full Text: https://doi.org/10.1001/archneur.58.10.1635]
</p>
</li>
<li>
<p class="mim-text-font">
Stoll, C., Maitrot, D.
<strong>Autosomal dominant carpal tunnel syndrome.</strong>
Clin. Genet. 54: 345-348, 1998.
[PubMed: 9831348]
[Full Text: https://doi.org/10.1034/j.1399-0004.1998.5440414.x]
</p>
</li>
<li>
<p class="mim-text-font">
Swoboda, K. J., Engle, E. C., Scheindlin, B., Anthony, D. C., Jones, H. R.
<strong>Mutilating hand syndrome in an infant with familial carpal tunnel syndrome.</strong>
Muscle Nerve. 21: 104-111, 1998.
[PubMed: 9427229]
[Full Text: https://doi.org/10.1002/(sici)1097-4598(199801)21:1&lt;104::aid-mus13&gt;3.0.co;2-3]
</p>
</li>
<li>
<p class="mim-text-font">
Vallat, J. M., Dunoyer, J.
<strong>Familial occurrence of entrapment neuropathies. (Letter)</strong>
Arch. Neurol. 36: 323 only, 1979.
[PubMed: 444109]
[Full Text: https://doi.org/10.1001/archneur.1979.00500410101026]
</p>
</li>
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Marla J. F. O&#x27;Neill - updated : 01/19/2021<br>Marla J. F. O&#x27;Neill - updated : 3/20/2006<br>Victor A. McKusick - updated : 8/9/2002<br>Victor A. McKusick - updated : 1/7/2000<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - updated : 4/15/1998
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