{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T05:03:20Z","timestamp":1777957400819,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,4,18]],"date-time":"2016-04-18T00:00:00Z","timestamp":1460937600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"JSPS KAKENHI","award":["22390429"],"award-info":[{"award-number":["22390429"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>We describe a Japanese man with familial amyotrophic lateral sclerosis (ALS) associated with a p.Cys146Arg mutation in the copper\/zinc superoxide dismutase gene (<jats:italic>SOD1<\/jats:italic>). The patient developed bulbar signs followed by rapidly progressive limb muscle weakness. The prominent clinical feature was orthostatic hypotension due to autonomic failure, which occurred after he underwent tracheostomy 1 year and 3 months after the onset. Thereafter, he required mechanical ventilation and progressed to communication stage V (totally locked\u2010in state) 7 years after the onset. Neuropathology showed ALS with posterior column degeneration and multiple system degeneration. Severe neuronal loss in the intermediolateral nucleus was also observed. Two previously reported cases of ALS patients with autonomic failure showed severe neuronal loss in the intermediolateral nucleus in addition to degeneration of the motor neurons. Thus, autonomic failure due to neuronal loss in the intermediolateral nucleus could present in patients with ALS associated with certain mutations in <jats:italic>SOD1<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/neup.12303","type":"journal-article","created":{"date-parts":[[2016,4,19]],"date-time":"2016-04-19T03:17:53Z","timestamp":1461035873000},"page":"551-555","source":"Crossref","is-referenced-by-count":17,"title":["A Japanese familial ALS patient with autonomic failure and a p.Cys146Arg mutation in the gene for SOD1 (<i>SOD1<\/i>)"],"prefix":"10.1111","volume":"36","author":[{"given":"Kentaro","family":"Hayashi","sequence":"first","affiliation":[{"name":"Department of Neurology Tokyo Metropolitan Neurological Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Mochizuki","sequence":"additional","affiliation":[{"name":"Department of Pathology Tokyo Metropolitan Neurological Hospital"},{"name":"Department of Neurology Tokyo Metropolitan Kita Medical and Rehabilitation center for the disabled"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reiji","family":"Koide","sequence":"additional","affiliation":[{"name":"Department of Neurology Tokyo Metropolitan Neurological Hospital"},{"name":"Division of Neurology, Department of Medicine Jichi Medical University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Kawata","sequence":"additional","affiliation":[{"name":"Department of Neurology Tokyo Metropolitan Neurological Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taku","family":"Homma","sequence":"additional","affiliation":[{"name":"Department of Pathology Tokyo Metropolitan Neurological Hospital"},{"name":"Department of Pathology Nihon University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Department of Neurology Tokyo Metropolitan Neurological Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Komori","sequence":"additional","affiliation":[{"name":"Department of Pathology Tokyo Metropolitan Neurological Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Isozaki","sequence":"additional","affiliation":[{"name":"Department of Neurology Tokyo Metropolitan Neurological Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,4,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(94)90009-4"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(97)00176-7"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.wco.0000183114.76056.0e"},{"key":"e_1_2_6_5_1","first-page":"175","article-title":"Different clinical phenotypes of siblings with familial amyotrophic lateral sclerosis showing Cys146Arg point mutation of superoxide dismutase 1 gene (in Japanese with English abstract)","volume":"42","author":"Ito K","year":"2002","journal-title":"Rinsho Shinkeigaku"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.60.3.351"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.7.1534"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(89)90158-5"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.5692\/clinicalneurol.53.98"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00697000"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.3.746"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.3109\/21678421.2013.873051"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0025-6196(12)62272-1"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294513"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050535"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2010.10.030"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00334889"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.08.016"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-004-0878-3"},{"key":"e_1_2_6_20_1","first-page":"903","article-title":"Neuropathology of Creutzfeldt\u2010Jakob disease in Japan. 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