Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation

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• 作者：Li Di ; Hai Chen ; Yuwei Da ; Suobing Wang ; Xin-Ming Shen
• 关键词：Amyotrophic lateral sclerosis ; ALS type 8 ; Vesicle ; associated membrane protein ; associated protein B ; Optineurin
• 刊名：Journal of Neurology
• 出版年：2016
• 出版时间：February 2016
• 年：2016
• 卷：263
• 期：2
• 页码：263-268
• 全文大小：386 KB
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• 作者单位：Li Di (1)
  Hai Chen (1)
  Yuwei Da (1)
  Suobing Wang (1)
  Xin-Ming Shen (2)
  
  1. Department of Neurology, Xuan Wu Hospital, Capital Medical University, Chang Chun Street, Beijing, 100053, China
  2. Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Neurology
  Neurosciences
  Neuroradiology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1459

文摘

Amyotrophic lateral sclerosis (ALS) is the most prevalent fatal motor neuron disease and ~10 % of cases are hereditary. Mutations associated with ALS have been identified in more than 20 genes, but ALS type 8 (ALS8), which is caused by mutations in vesicle-associated membrane protein-associated protein B (VAPB), is rare. To date, the dominant missense mutation P56S, which is in the major sperm protein domain of VAPB, has been described in nine families of Portuguese-Brazilian origin and one family of German origin. Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype. Haplotype tests revealed that VAPB-P56S in the Chinese family has arisen independently from the Brazilian cohorts. To our knowledge, this is the first study to report ALS caused by a VAPB mutation in a Chinese population. Keywords Amyotrophic lateral sclerosis ALS type 8 Vesicle-associated membrane protein-associated protein B Optineurin