{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T22:33:51Z","timestamp":1785191631201,"version":"3.55.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T00:00:00Z","timestamp":1490227200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["Z01\u2010AG000949\u201002"],"award-info":[{"award-number":["Z01\u2010AG000949\u201002"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"NINDS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Progressive bulbar motor neuropathy is primarily caused by bulbar\u2010onset ALS. Hereditary amyloidosis type IV also presents with a bulbar neuropathy that mimics motor neuron disease. The disease is prevalent in Finland only and is not commonly included in the differential diagnosis of ALS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We studied 18 members of a family in which some had bulbar motor neuropathy, and we performed exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five affected family members were found to have a D187Y substitution in the <jats:italic>GSN<\/jats:italic> gene known to cause hereditary amyloidosis type IV.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This American family presented with progressive bulbar neuropathy due to a gelsolin mutation not found in Finland. Hereditary amyloidosis type IV presents with bulbar motor neuropathy and not with peripheral neuropathy as occurs with common forms of amyloidosis. This report demonstrates the power of exome sequencing to determine the cause of rare hereditary diseases with incomplete or atypical phenotypes. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>56<\/jats:bold>: 1001\u20131005, 2017<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25550","type":"journal-article","created":{"date-parts":[[2016,12,31]],"date-time":"2016-12-31T08:26:40Z","timestamp":1483172800000},"page":"1001-1005","source":"Crossref","is-referenced-by-count":9,"title":["Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar\u2010onset neuropathy"],"prefix":"10.1002","volume":"56","author":[{"given":"James B.","family":"Caress","sequence":"first","affiliation":[{"name":"Department of Neurology, Wake Forest School of Medicine Medical Center Blvd Winston\u2010Salem North Carolina 27157 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janel O.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yevgeniya A.","family":"Abramzon","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology Queen Square, London United Kingdom"},{"name":"Neuromuscular Diseases Research Section Laboratory of Neurogenetics, National Institute on Aging National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory A.","family":"Hawkins","sequence":"additional","affiliation":[{"name":"Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine Medical Center Blvd Winston\u2010Salem NC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Raphael","family":"Gibbs","sequence":"additional","affiliation":[{"name":"Computational Biology Core, Laboratory of Neurogenetics, National Institute on Aging National Institutes of Health Bethesda Maryland USA"},{"name":"Department of Molecular Neuroscience, MRC Centre for Neuromuscular Diseases and the Reta Lila Weston Institute of Neurological Studies, Institute of Neurology University College London Queen Square London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Neurology Associates Merit Health Medical Group Hattiesburg Mississippi USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chamanpreet S.","family":"Chahal","sequence":"additional","affiliation":[{"name":"Neurological Associates New Westminster BC Canada V3L 3W4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan J.","family":"Traynor","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,23]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"1227","article-title":"Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy","volume":"216","author":"Plante\u2010Bordeneuve V","year":"2015","journal-title":"J Neurol"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1092-157"},{"key":"e_1_2_6_4_1","first-page":"522","article-title":"Finnish type of familial amyloidosis: cosegregation of asp187\u2192 asn mutation of gelsolin with the disease in three large families","volume":"49","author":"Hiltunen T","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20448"},{"key":"e_1_2_6_6_1","first-page":"314","article-title":"Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. 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