{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T19:14:26Z","timestamp":1790018066209,"version":"4.0.1"},"reference-count":18,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T00:00:00Z","timestamp":1581379200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer\u2019s Disease"],"published-print":{"date-parts":[[2020,3,24]]},"abstract":"\n Background:<\/jats:title>\n Amyotrophic lateral sclerosis\/frontotemporal dementia (ALS\/FTD) includes a large spectrum of neurodegenerative disorders.<\/jats:p>\n <\/jats:sec>\n \n Objective:<\/jats:title>\n To identify the relationship of ErbB4 mutation and ALS\/FTD.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n Here, we report an atypical case of frontal variant behavioral abnormalities at the initial stage, a stable plateau stage of 5 years, and paralysis involving both upper and lower motor neurons followed by progressive cognitive dysfunction at the advanced stage. The clinical findings suggested a diagnosis of ALS\/FTD, and genetic testing revealed erb-b2 receptor tyrosine kinase 4 ( ErbB4) heterozygous mutation (c.2136 T>G, p.I712M), identified in an ALS pedigree previously. We modeled mutant ErbB4 protein through the SWISS-MODEL Server, and speculated on the structural change caused by the mutation. We also identified that ErbB4 (I712M) mutation led to reduced auto-phosphorylation of ErbB4 upon neuregulin-1 (NRG1) stimulation.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n A functional analysis of ErbB4 mutation demonstrated an obviously decreased auto-phosphorylation of ErbB4 involving in the pathogenesis of ALS\/FTD.<\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n We firstly found ErbB4 mutation to be identified in ALS\/FTD.<\/jats:p>\n <\/jats:sec>","DOI":"10.3233\/jad-191230","type":"journal-article","created":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T10:48:13Z","timestamp":1581418093000},"page":"535-544","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":27,"title":["ErbB4<\/i>\n Mutation that Decreased NRG1-ErbB4 Signaling Involved in the Pathogenesis of Amyotrophic Lateral Sclerosis\/Frontotemporal Dementia"],"prefix":"10.1177","volume":"74","author":[{"given":"Lin","family":"Sun","sequence":"first","affiliation":[{"name":"Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baoying","family":"Cheng","sequence":"additional","affiliation":[{"name":"Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, College of Medicine, Xiamen University, Xiamen, China"},{"name":"Department of Neuroscience, Shenzhen Research Institute of Xiamen University, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuxun","family":"Zhou","sequence":"additional","affiliation":[{"name":"The College of Chemistry, Chemical Engineering & Biotechnology, Donghua University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yating","family":"Fan","sequence":"additional","affiliation":[{"name":"The College of Chemistry, Chemical Engineering & Biotechnology, Donghua University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[{"name":"Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Qiu","sequence":"additional","affiliation":[{"name":"Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Fang","sequence":"additional","affiliation":[{"name":"Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shifu","family":"Xiao","sequence":"additional","affiliation":[{"name":"Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Honghua","family":"Zheng","sequence":"additional","affiliation":[{"name":"Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, College of Medicine, Xiamen University, Xiamen, China"},{"name":"Department of Neuroscience, Shenzhen Research Institute of Xiamen University, Shenzhen, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xia","family":"Li","sequence":"additional","affiliation":[{"name":"Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,2,11]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2016.00216"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-016-0358-8"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-016-1587-4"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/9279516"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a024299"},{"key":"ref006","first-page":"1403","volume":"70","author":"Le Ber I","year":"2013","journal-title":"JAMA 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