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<title>
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Entry
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- #139393 - GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS
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- OMIM
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<span class="h4">#139393</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/139393"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</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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<div><a href="https://clinicaltrials.gov/search?cond=(GUILLAIN-BARRE SYNDROME, FAMILIAL) OR (PMP22)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13933&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://medlineplus.gov/genetics/condition/guillain-barre-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98916" 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:12842" 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/139393" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002062/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:12842" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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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> 128209004, 26261000119109, 716723000<br />
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<strong>ICD10CM:</strong> G61.81<br />
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<strong>ICD9CM:</strong> 357.81<br />
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<strong>ORPHA:</strong> 98916<br />
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<strong>DO:</strong> 12842<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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139393
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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Phenotype
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17p12
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?Neuropathy, inflammatory demyelinating
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<span class="mim-font">
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<a href="/entry/139393"> 139393 </a>
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PMP22
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<a href="/entry/601097"> 601097 </a>
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- Acute demyelinating polyneuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4024933&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4024933</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007131" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007131</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007131" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007131</a>]</span><br />
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- Usually sporadic<br />
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- ? Autosomal dominant form<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because a mutation in the PMP22 gene (<a href="/entry/601097">601097</a>) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.</p>
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<p>Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (<a href="#13" class="mim-tip-reference" title="Yuki, N., Tsujino, Y. <strong>Familial Guillain-Barre syndrome subsequent to Campylobacter jejuni enteritis. (Letter)</strong> J. Pediat. 126: 162 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7815216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7815216</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70539-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7815216">Yuki and Tsujino, 1995</a>; <a href="#5" class="mim-tip-reference" title="Koga, M., Takahashi, M., Masuda, M., Hirata, K., Yuki, N. <strong>Campylobacter gene polymorphism as a determinant of clinical features of Guillain-Barre syndrome.</strong> Neurology 65: 1376-1381, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16162859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16162859</a>] [<a href="https://doi.org/10.1212/01.wnl.0000176914.70893.14" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16162859">Koga et al., 2005</a>). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (<a href="#9" class="mim-tip-reference" title="Nachamkin, I. <strong>Campylobacter enteritis and the Guillain-Barre syndrome.</strong> Curr. Infect. Dis. Rep. 3: 116-122, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286651</a>] [<a href="https://doi.org/10.1007/s11908-996-0033-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11286651">Nachamkin, 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7815216+11286651+16162859" 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>Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (<a href="#3" class="mim-tip-reference" title="Geleijns, K., Brouwer, B. A., Jacobs, B. C., Houwing-Duistermaat, J. J., van Duijn, C. M., van Doorn, P. A. <strong>The occurrence of Guillain-Barre syndrome within families.</strong> Neurology 63: 1747-1750, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15534275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15534275</a>] [<a href="https://doi.org/10.1212/01.wnl.0000143055.09646.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15534275">Geleijns et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15534275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Davidson, D. L. W., O'Sullivan, A. F., Morley, K. D. <strong>HLA antigens in familial Guillain-Barre syndrome. (Letter)</strong> J. Neurol. Neurosurg. Psychiat. 55: 508-509, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1619424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1619424</a>] [<a href="https://doi.org/10.1136/jnnp.55.6.508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1619424">Davidson et al. (1992)</a> reported the disorder in a father and son. The father's illness was at the age of 58 years. He recovered completely after a 2-month hospitalization during which he was treated with plasmapheresis. The son was hospitalized 9 years later at the age of 43 years; he also was treated with plasmapheresis, with complete recovery in 3 months. <a href="#2" class="mim-tip-reference" title="Davidson, D. L. W., O'Sullivan, A. F., Morley, K. D. <strong>HLA antigens in familial Guillain-Barre syndrome. (Letter)</strong> J. Neurol. Neurosurg. Psychiat. 55: 508-509, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1619424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1619424</a>] [<a href="https://doi.org/10.1136/jnnp.55.6.508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1619424">Davidson et al. (1992)</a> commented on remarkably similar HLA typing results in the father and son. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1619424" 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="#13" class="mim-tip-reference" title="Yuki, N., Tsujino, Y. <strong>Familial Guillain-Barre syndrome subsequent to Campylobacter jejuni enteritis. (Letter)</strong> J. Pediat. 126: 162 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7815216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7815216</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70539-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7815216">Yuki and Tsujino (1995)</a> reported 2 Japanese sisters who developed GBS following C. jejuni enteritis. The 19-month-old sister first developed flaccid tetraplegia and areflexia without sensory impairment and later showed esotropia, dysphagia, dysarthria, and nuchal weakness. All symptoms began to improve after about 2 weeks, and she was able to walk without support at day 117. Her 3.5-year-old sister developed similar clinical features, as well as respiratory failure and absence of corneal reflexes. She became comatose at day 7. She regained consciousness on day 22 and slowly recovered muscle function and the ability to walk without support at day 166. Both children met the clinical criteria for GBS following culture-confirmed C. jejuni enteritis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7815216" 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="Geleijns, K., Brouwer, B. A., Jacobs, B. C., Houwing-Duistermaat, J. J., van Duijn, C. M., van Doorn, P. A. <strong>The occurrence of Guillain-Barre syndrome within families.</strong> Neurology 63: 1747-1750, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15534275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15534275</a>] [<a href="https://doi.org/10.1212/01.wnl.0000143055.09646.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15534275">Geleijns et al. (2004)</a> reported 12 Dutch families in which at least 2 members had GBS. Clinical features were variable, even within families. The most common manifestations were motor deficits, including limb weakness, ataxia, ophthalmoplegia, bulbar weakness, dysphagia, and ptosis, although many patients also had sensory deficits. Almost all had a prodromal infectious illness. Among sibs, the observed incidence was increased 2.6-fold compared to the expected incidence. There was also a trend toward decreased age at onset in younger generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15534275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Saunders, M., Rake, M. <strong>Familial Guillain-Barre syndrome.</strong> Lancet 286: 1106-1107, 1965. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4158808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4158808</a>] [<a href="https://doi.org/10.1016/s0140-6736(65)90067-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4158808">Saunders and Rake (1965)</a> reported a brother and sister in whom muscle weakness developed 4 years apart. <a href="#8" class="mim-tip-reference" title="MacGregor, G. A. <strong>Familial Guillain-Barre syndrome. (Letter)</strong> Lancet 286: 1296 only, 1965. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4165426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4165426</a>] [<a href="https://doi.org/10.1016/s0140-6736(65)92313-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4165426">MacGregor (1965)</a> reported a father with GBS whose daughter had an acute febrile illness with painful sensory neuropathy. Although these early reports suggested familial occurrence, <a href="#13" class="mim-tip-reference" title="Yuki, N., Tsujino, Y. <strong>Familial Guillain-Barre syndrome subsequent to Campylobacter jejuni enteritis. (Letter)</strong> J. Pediat. 126: 162 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7815216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7815216</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70539-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7815216">Yuki and Tsujino (1995)</a> noted that some of the patients reported by <a href="#11" class="mim-tip-reference" title="Saunders, M., Rake, M. <strong>Familial Guillain-Barre syndrome.</strong> Lancet 286: 1106-1107, 1965. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4158808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4158808</a>] [<a href="https://doi.org/10.1016/s0140-6736(65)90067-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4158808">Saunders and Rake (1965)</a> and <a href="#8" class="mim-tip-reference" title="MacGregor, G. A. <strong>Familial Guillain-Barre syndrome. (Letter)</strong> Lancet 286: 1296 only, 1965. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4165426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4165426</a>] [<a href="https://doi.org/10.1016/s0140-6736(65)92313-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4165426">MacGregor (1965)</a> would not have fulfilled the accepted diagnostic criteria for GBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7815216+4158808+4165426" 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="Bar-Joseph, G., Etzioni, A., Hemli, J., Gershoni-Baruch, R. <strong>Guillain-Barre syndrome in three siblings less than 2 years old.</strong> Arch. Dis. Child. 66: 1078-1079, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1929520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1929520</a>] [<a href="https://doi.org/10.1136/adc.66.9.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1929520">Bar-Joseph et al. (1991)</a> reported 3 children, born of consanguineous parents in Israel, who all developed GBS before age 3 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1929520" 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>Based on the observation of 12 Dutch families with at least 2 affected members, <a href="#3" class="mim-tip-reference" title="Geleijns, K., Brouwer, B. A., Jacobs, B. C., Houwing-Duistermaat, J. J., van Duijn, C. M., van Doorn, P. A. <strong>The occurrence of Guillain-Barre syndrome within families.</strong> Neurology 63: 1747-1750, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15534275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15534275</a>] [<a href="https://doi.org/10.1212/01.wnl.0000143055.09646.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15534275">Geleijns et al. (2004)</a> concluded that there may be a genetic component to increased susceptibility to GBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15534275" 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>Guillain-Barre syndrome has been associated with antecedent C. jejuni infections. <a href="#7" class="mim-tip-reference" title="Ma, J. J., Nishimura, M., Mine, H., Kuroki, S., Nukina, M., Ohta, M., Saji, H., Obayashi, H., Kawakami, H., Saida, T., Uchiyama, T. <strong>Genetic contribution of the tumor necrosis factor region in Guillain-Barre syndrome.</strong> Ann. Neurol. 44: 815-818, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9818939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9818939</a>] [<a href="https://doi.org/10.1002/ana.410440517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9818939">Ma et al. (1998)</a> found a higher frequency of a rare polymorphism in the TNFA gene (-308G-A; <a href="/entry/191160#0004">191160.0004</a>) in 43 Japanese patients with GBS who had had antecedent infection with C. jejuni compared to 85 community controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9818939" 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>Despite the association of Guillain-Barre syndrome with antecedent C. jejuni infection, only a minority of infected individuals develop the disease, implying a role for genetic factors in conferring susceptibility. <a href="#10" class="mim-tip-reference" title="Pandey, J. P., Vedeler, C. A. <strong>Immunoglobulin KM genes in Guillain-Barre syndrome.</strong> Neurogenetics 4: 147-149, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12736802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12736802</a>] [<a href="https://doi.org/10.1007/s10048-003-0144-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12736802">Pandey and Vedeler (2003)</a> genotyped 83 patients and 196 healthy controls in Norway for immunoglobulin KM genes (genetic markers of the constant region of kappa immunoglobulin chains; <a href="/entry/147200">147200</a>) by PCR-RFLP. The frequency of KM3 homozygotes was significantly increased in the patients compared with controls. Conversely, the frequency of KM1/KM3 heterozygotes was significantly decreased in patients compared with controls. The results suggested that KM genes may be relevant to the etiology of Guillain-Barre syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12736802" 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="Korn-Lubetzki, I., Argov, Z., Raas-Rothschild, A., Wirguin, I., Steiner, I. <strong>Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.</strong> Am. J. Med. Genet. 113: 275-278, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12439896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12439896</a>] [<a href="https://doi.org/10.1002/ajmg.10725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12439896">Korn-Lubetzki et al. (2002)</a> described a family of Jewish Kurdish origin in which the father and 2 daughters were diagnosed with inflammatory demyelinating polyneuropathy within 10 years of each other. In the 2 patients tested, the father with the chronic form and a daughter with the acute form, a deletion in the PMP22 gene (<a href="/entry/601097#0004">601097.0004</a>) typical of hereditary neuropathy with liability to pressure palsies (HNPP; <a href="/entry/162500">162500</a>) was identified. The authors suggested that screening for the HNPP deletion in patients with atypical, recurrent, or familial inflammatory demyelinating polyneuropathy may be warranted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12439896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The C. jejuni cst-II gene, which is involved in the biosynthesis of ganglioside-like lipooligosaccharides (LOS), has an asn51-to-thr (N51T) polymorphism that encodes a bifunctional alpha-2,3- and alpha-2,8-sialyltransferase and a monofunctional alpha-2,3-sialyltransferase, respectively. This polymorphism is assumed to affect autoantibody responses in the host through changes in the ganglioside epitope on the outer core of the organism. In a comparison of C. jejuni isolates from 105 patients with GBS, including 25 patients with similar neurologic variants, with 65 patients with uncomplicated enteritis, <a href="#5" class="mim-tip-reference" title="Koga, M., Takahashi, M., Masuda, M., Hirata, K., Yuki, N. <strong>Campylobacter gene polymorphism as a determinant of clinical features of Guillain-Barre syndrome.</strong> Neurology 65: 1376-1381, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16162859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16162859</a>] [<a href="https://doi.org/10.1212/01.wnl.0000176914.70893.14" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16162859">Koga et al. (2005)</a> found that the neuropathic strains more frequently had the cst-II gene (85%), in particular the cst-II thr51 variant, compared to enteric strains (52%). C. jejuni strains with asn51 regularly expressed the GQ1b epitope (83%), those with thr51 had the GM1 (92%) and GD1a (91%) epitopes, and the presence of these strains in neuropathy patients corresponded to specific autoantibody reactivity. <a href="#5" class="mim-tip-reference" title="Koga, M., Takahashi, M., Masuda, M., Hirata, K., Yuki, N. <strong>Campylobacter gene polymorphism as a determinant of clinical features of Guillain-Barre syndrome.</strong> Neurology 65: 1376-1381, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16162859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16162859</a>] [<a href="https://doi.org/10.1212/01.wnl.0000176914.70893.14" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16162859">Koga et al. (2005)</a> concluded that the genetic polymorphism of C. jejuni may determine autoantibody reactivity as well as clinical presentation of GBS, possibly through modification of host-mimicking molecules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16162859" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hu, W., Dehmel, T., Pirhonen, J., Hartung, H.-P., Kieseier, B. C. <strong>Interleukin 23 in acute inflammatory demyelination of the peripheral nerve.</strong> Arch. Neurol. 63: 858-864, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16769867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16769867</a>] [<a href="https://doi.org/10.1001/archneur.63.6.858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16769867">Hu et al. (2006)</a> detected the IL23p19 protein (IL23A; <a href="/entry/605580">605580</a>) in cerebrospinal fluid isolated from 5 patients with GBS. Sural nerve biopsies from these patients showed IL23p19 immunostaining in endoneurial macrophages. IL23A RNA was upregulated in sciatic nerve samples from 5 rats with experimental autoimmune neuritis (EAN), an animal model of GBS. Peak expression of IL23A RNA in the diseased animals occurred 2 days prior to peak clinical disease severity and then decreased to undetectable levels with clinical improvement. <a href="#4" class="mim-tip-reference" title="Hu, W., Dehmel, T., Pirhonen, J., Hartung, H.-P., Kieseier, B. C. <strong>Interleukin 23 in acute inflammatory demyelination of the peripheral nerve.</strong> Arch. Neurol. 63: 858-864, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16769867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16769867</a>] [<a href="https://doi.org/10.1001/archneur.63.6.858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16769867">Hu et al. (2006)</a> concluded that IL23 may play a role in the early effector phase of immune-mediated demyelination of the peripheral nerve. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16769867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Wilmshurst1999" class="mim-tip-reference" title="Wilmshurst, J. M., Pohl, K. R. E., Vaughan, R. W., Hughes, R. A. C. <strong>Familial Guillain-Barre syndrome.</strong> Europ. J. Neurol. 6: 499-503, 1999.">Wilmshurst et al. (1999)</a>
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Bar-Joseph, G., Etzioni, A., Hemli, J., Gershoni-Baruch, R.
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<strong>Guillain-Barre syndrome in three siblings less than 2 years old.</strong>
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Arch. Dis. Child. 66: 1078-1079, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1929520/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1929520</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1929520" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Davidson, D. L. W., O'Sullivan, A. F., Morley, K. D.
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<strong>HLA antigens in familial Guillain-Barre syndrome. (Letter)</strong>
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J. Neurol. Neurosurg. Psychiat. 55: 508-509, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1619424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1619424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1619424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>The occurrence of Guillain-Barre syndrome within families.</strong>
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Neurology 63: 1747-1750, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15534275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15534275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15534275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Interleukin 23 in acute inflammatory demyelination of the peripheral nerve.</strong>
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Arch. Neurol. 63: 858-864, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16769867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16769867</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16769867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.63.6.858" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Koga2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Koga, M., Takahashi, M., Masuda, M., Hirata, K., Yuki, N.
|
|
<strong>Campylobacter gene polymorphism as a determinant of clinical features of Guillain-Barre syndrome.</strong>
|
|
Neurology 65: 1376-1381, 2005.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16162859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16162859</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16162859" 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/10.1212/01.wnl.0000176914.70893.14" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Korn-Lubetzki2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Korn-Lubetzki, I., Argov, Z., Raas-Rothschild, A., Wirguin, I., Steiner, I.
|
|
<strong>Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.</strong>
|
|
Am. J. Med. Genet. 113: 275-278, 2002.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12439896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12439896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12439896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.10725" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Ma1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Ma, J. J., Nishimura, M., Mine, H., Kuroki, S., Nukina, M., Ohta, M., Saji, H., Obayashi, H., Kawakami, H., Saida, T., Uchiyama, T.
|
|
<strong>Genetic contribution of the tumor necrosis factor region in Guillain-Barre syndrome.</strong>
|
|
Ann. Neurol. 44: 815-818, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9818939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9818939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9818939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410440517" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="MacGregor1965" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
MacGregor, G. A.
|
|
<strong>Familial Guillain-Barre syndrome. (Letter)</strong>
|
|
Lancet 286: 1296 only, 1965. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4165426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4165426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4165426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(65)92313-5" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Nachamkin2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nachamkin, I.
|
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<strong>Campylobacter enteritis and the Guillain-Barre syndrome.</strong>
|
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Curr. Infect. Dis. Rep. 3: 116-122, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11286651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11286651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11286651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s11908-996-0033-5" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Pandey2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pandey, J. P., Vedeler, C. A.
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<strong>Immunoglobulin KM genes in Guillain-Barre syndrome.</strong>
|
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Neurogenetics 4: 147-149, 2003.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12736802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12736802</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12736802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-003-0144-1" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Saunders1965" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Saunders, M., Rake, M.
|
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<strong>Familial Guillain-Barre syndrome.</strong>
|
|
Lancet 286: 1106-1107, 1965. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4158808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4158808</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4158808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(65)90067-x" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Wilmshurst1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilmshurst, J. M., Pohl, K. R. E., Vaughan, R. W., Hughes, R. A. C.
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<strong>Familial Guillain-Barre syndrome.</strong>
|
|
Europ. J. Neurol. 6: 499-503, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10362907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10362907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10362907" 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/10.1046/j.1468-1331.1999.640499.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Yuki1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yuki, N., Tsujino, Y.
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<strong>Familial Guillain-Barre syndrome subsequent to Campylobacter jejuni enteritis. (Letter)</strong>
|
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J. Pediat. 126: 162 only, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7815216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7815216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7815216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(95)70539-2" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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 : 3/12/2007
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 : 2/13/2007<br>Victor A. McKusick - updated : 11/18/2003<br>Victor A. McKusick - updated : 11/18/2003<br>Victor A. McKusick - updated : 7/15/2003<br>Orest Hurko - updated : 8/25/1999
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
|
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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 : 8/27/1992
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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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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terry : 04/08/2009
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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wwang : 3/13/2007<br>ckniffin : 3/12/2007<br>carol : 2/23/2007<br>carol : 2/23/2007<br>ckniffin : 2/13/2007<br>terry : 11/3/2004<br>carol : 11/18/2003<br>terry : 11/18/2003<br>carol : 7/15/2003<br>tkritzer : 12/2/2002<br>terry : 11/27/2002<br>carol : 8/25/1999<br>mimadm : 9/24/1994<br>carol : 8/31/1992<br>carol : 8/27/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>#</strong> 139393
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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|
GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, ACUTE; AIDP
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
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</span>
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</p>
|
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</div>
|
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<div>
|
|
<span class="h3 mim-font">
|
|
POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC, INCLUDED; CIDP, INCLUDED
|
|
</span>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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|
<strong>SNOMEDCT:</strong> 128209004, 26261000119109, 716723000;
|
|
|
|
|
|
<strong>ICD10CM:</strong> G61.81;
|
|
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|
|
|
<strong>ICD9CM:</strong> 357.81;
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|
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|
|
<strong>ORPHA:</strong> 98916;
|
|
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|
|
<strong>DO:</strong> 12842;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
17p12
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
?Neuropathy, inflammatory demyelinating
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
139393
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
?Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
PMP22
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
601097
|
|
</span>
|
|
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.</p>
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<strong>Description</strong>
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<p>Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001). </p><p>Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004). </p>
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<strong>Clinical Features</strong>
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<p>Davidson et al. (1992) reported the disorder in a father and son. The father's illness was at the age of 58 years. He recovered completely after a 2-month hospitalization during which he was treated with plasmapheresis. The son was hospitalized 9 years later at the age of 43 years; he also was treated with plasmapheresis, with complete recovery in 3 months. Davidson et al. (1992) commented on remarkably similar HLA typing results in the father and son. </p><p>Yuki and Tsujino (1995) reported 2 Japanese sisters who developed GBS following C. jejuni enteritis. The 19-month-old sister first developed flaccid tetraplegia and areflexia without sensory impairment and later showed esotropia, dysphagia, dysarthria, and nuchal weakness. All symptoms began to improve after about 2 weeks, and she was able to walk without support at day 117. Her 3.5-year-old sister developed similar clinical features, as well as respiratory failure and absence of corneal reflexes. She became comatose at day 7. She regained consciousness on day 22 and slowly recovered muscle function and the ability to walk without support at day 166. Both children met the clinical criteria for GBS following culture-confirmed C. jejuni enteritis. </p><p>Geleijns et al. (2004) reported 12 Dutch families in which at least 2 members had GBS. Clinical features were variable, even within families. The most common manifestations were motor deficits, including limb weakness, ataxia, ophthalmoplegia, bulbar weakness, dysphagia, and ptosis, although many patients also had sensory deficits. Almost all had a prodromal infectious illness. Among sibs, the observed incidence was increased 2.6-fold compared to the expected incidence. There was also a trend toward decreased age at onset in younger generations. </p>
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<strong>Inheritance</strong>
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<p>Saunders and Rake (1965) reported a brother and sister in whom muscle weakness developed 4 years apart. MacGregor (1965) reported a father with GBS whose daughter had an acute febrile illness with painful sensory neuropathy. Although these early reports suggested familial occurrence, Yuki and Tsujino (1995) noted that some of the patients reported by Saunders and Rake (1965) and MacGregor (1965) would not have fulfilled the accepted diagnostic criteria for GBS. </p><p>Bar-Joseph et al. (1991) reported 3 children, born of consanguineous parents in Israel, who all developed GBS before age 3 years. </p><p>Based on the observation of 12 Dutch families with at least 2 affected members, Geleijns et al. (2004) concluded that there may be a genetic component to increased susceptibility to GBS. </p>
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<strong>Molecular Genetics</strong>
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<p>Guillain-Barre syndrome has been associated with antecedent C. jejuni infections. Ma et al. (1998) found a higher frequency of a rare polymorphism in the TNFA gene (-308G-A; 191160.0004) in 43 Japanese patients with GBS who had had antecedent infection with C. jejuni compared to 85 community controls. </p><p>Despite the association of Guillain-Barre syndrome with antecedent C. jejuni infection, only a minority of infected individuals develop the disease, implying a role for genetic factors in conferring susceptibility. Pandey and Vedeler (2003) genotyped 83 patients and 196 healthy controls in Norway for immunoglobulin KM genes (genetic markers of the constant region of kappa immunoglobulin chains; 147200) by PCR-RFLP. The frequency of KM3 homozygotes was significantly increased in the patients compared with controls. Conversely, the frequency of KM1/KM3 heterozygotes was significantly decreased in patients compared with controls. The results suggested that KM genes may be relevant to the etiology of Guillain-Barre syndrome. </p><p>Korn-Lubetzki et al. (2002) described a family of Jewish Kurdish origin in which the father and 2 daughters were diagnosed with inflammatory demyelinating polyneuropathy within 10 years of each other. In the 2 patients tested, the father with the chronic form and a daughter with the acute form, a deletion in the PMP22 gene (601097.0004) typical of hereditary neuropathy with liability to pressure palsies (HNPP; 162500) was identified. The authors suggested that screening for the HNPP deletion in patients with atypical, recurrent, or familial inflammatory demyelinating polyneuropathy may be warranted. </p>
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<strong>Pathogenesis</strong>
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<p>The C. jejuni cst-II gene, which is involved in the biosynthesis of ganglioside-like lipooligosaccharides (LOS), has an asn51-to-thr (N51T) polymorphism that encodes a bifunctional alpha-2,3- and alpha-2,8-sialyltransferase and a monofunctional alpha-2,3-sialyltransferase, respectively. This polymorphism is assumed to affect autoantibody responses in the host through changes in the ganglioside epitope on the outer core of the organism. In a comparison of C. jejuni isolates from 105 patients with GBS, including 25 patients with similar neurologic variants, with 65 patients with uncomplicated enteritis, Koga et al. (2005) found that the neuropathic strains more frequently had the cst-II gene (85%), in particular the cst-II thr51 variant, compared to enteric strains (52%). C. jejuni strains with asn51 regularly expressed the GQ1b epitope (83%), those with thr51 had the GM1 (92%) and GD1a (91%) epitopes, and the presence of these strains in neuropathy patients corresponded to specific autoantibody reactivity. Koga et al. (2005) concluded that the genetic polymorphism of C. jejuni may determine autoantibody reactivity as well as clinical presentation of GBS, possibly through modification of host-mimicking molecules. </p><p>Hu et al. (2006) detected the IL23p19 protein (IL23A; 605580) in cerebrospinal fluid isolated from 5 patients with GBS. Sural nerve biopsies from these patients showed IL23p19 immunostaining in endoneurial macrophages. IL23A RNA was upregulated in sciatic nerve samples from 5 rats with experimental autoimmune neuritis (EAN), an animal model of GBS. Peak expression of IL23A RNA in the diseased animals occurred 2 days prior to peak clinical disease severity and then decreased to undetectable levels with clinical improvement. Hu et al. (2006) concluded that IL23 may play a role in the early effector phase of immune-mediated demyelination of the peripheral nerve. </p>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Wilmshurst et al. (1999)
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<strong>REFERENCES</strong>
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</h4>
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Bar-Joseph, G., Etzioni, A., Hemli, J., Gershoni-Baruch, R.
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<strong>Guillain-Barre syndrome in three siblings less than 2 years old.</strong>
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Arch. Dis. Child. 66: 1078-1079, 1991.
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[PubMed: 1929520]
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[Full Text: https://doi.org/10.1136/adc.66.9.1078]
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Davidson, D. L. W., O'Sullivan, A. F., Morley, K. D.
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<strong>HLA antigens in familial Guillain-Barre syndrome. (Letter)</strong>
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J. Neurol. Neurosurg. Psychiat. 55: 508-509, 1992.
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[PubMed: 1619424]
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[Full Text: https://doi.org/10.1136/jnnp.55.6.508]
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Geleijns, K., Brouwer, B. A., Jacobs, B. C., Houwing-Duistermaat, J. J., van Duijn, C. M., van Doorn, P. A.
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<strong>The occurrence of Guillain-Barre syndrome within families.</strong>
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Neurology 63: 1747-1750, 2004.
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[PubMed: 15534275]
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[Full Text: https://doi.org/10.1212/01.wnl.0000143055.09646.31]
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Hu, W., Dehmel, T., Pirhonen, J., Hartung, H.-P., Kieseier, B. C.
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<strong>Interleukin 23 in acute inflammatory demyelination of the peripheral nerve.</strong>
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Arch. Neurol. 63: 858-864, 2006.
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[PubMed: 16769867]
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[Full Text: https://doi.org/10.1001/archneur.63.6.858]
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Koga, M., Takahashi, M., Masuda, M., Hirata, K., Yuki, N.
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<strong>Campylobacter gene polymorphism as a determinant of clinical features of Guillain-Barre syndrome.</strong>
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Neurology 65: 1376-1381, 2005.
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[PubMed: 16162859]
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[Full Text: https://doi.org/10.1212/01.wnl.0000176914.70893.14]
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Korn-Lubetzki, I., Argov, Z., Raas-Rothschild, A., Wirguin, I., Steiner, I.
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<strong>Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.</strong>
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Am. J. Med. Genet. 113: 275-278, 2002.
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[PubMed: 12439896]
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[Full Text: https://doi.org/10.1002/ajmg.10725]
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Ma, J. J., Nishimura, M., Mine, H., Kuroki, S., Nukina, M., Ohta, M., Saji, H., Obayashi, H., Kawakami, H., Saida, T., Uchiyama, T.
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<strong>Genetic contribution of the tumor necrosis factor region in Guillain-Barre syndrome.</strong>
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Ann. Neurol. 44: 815-818, 1998.
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[PubMed: 9818939]
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[Full Text: https://doi.org/10.1002/ana.410440517]
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MacGregor, G. A.
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<strong>Familial Guillain-Barre syndrome. (Letter)</strong>
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Lancet 286: 1296 only, 1965. Note: Originally Volume 2.
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[PubMed: 4165426]
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[Full Text: https://doi.org/10.1016/s0140-6736(65)92313-5]
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Nachamkin, I.
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<strong>Campylobacter enteritis and the Guillain-Barre syndrome.</strong>
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Curr. Infect. Dis. Rep. 3: 116-122, 2001.
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[PubMed: 11286651]
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[Full Text: https://doi.org/10.1007/s11908-996-0033-5]
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Pandey, J. P., Vedeler, C. A.
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<strong>Immunoglobulin KM genes in Guillain-Barre syndrome.</strong>
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Neurogenetics 4: 147-149, 2003.
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[PubMed: 12736802]
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[Full Text: https://doi.org/10.1007/s10048-003-0144-1]
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Saunders, M., Rake, M.
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<strong>Familial Guillain-Barre syndrome.</strong>
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Lancet 286: 1106-1107, 1965. Note: Originally Volume 2.
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[PubMed: 4158808]
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[Full Text: https://doi.org/10.1016/s0140-6736(65)90067-x]
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Wilmshurst, J. M., Pohl, K. R. E., Vaughan, R. W., Hughes, R. A. C.
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<strong>Familial Guillain-Barre syndrome.</strong>
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Europ. J. Neurol. 6: 499-503, 1999.
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[PubMed: 10362907]
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[Full Text: https://doi.org/10.1046/j.1468-1331.1999.640499.x]
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Yuki, N., Tsujino, Y.
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<strong>Familial Guillain-Barre syndrome subsequent to Campylobacter jejuni enteritis. (Letter)</strong>
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J. Pediat. 126: 162 only, 1995.
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[PubMed: 7815216]
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[Full Text: https://doi.org/10.1016/s0022-3476(95)70539-2]
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Cassandra L. Kniffin - updated : 3/12/2007<br>Cassandra L. Kniffin - updated : 2/13/2007<br>Victor A. McKusick - updated : 11/18/2003<br>Victor A. McKusick - updated : 11/18/2003<br>Victor A. McKusick - updated : 7/15/2003<br>Orest Hurko - updated : 8/25/1999
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