title: [Association between VAPB mutations and familial amyotrophic lateral sclerosis in Chinese patients].
abstract: OBJECTIVE
  To explore the mutations of VAPB (vesicle associated membrane protein/synaptobrevin associated membrane protein B) in Chinese patients with familial amyotrophic lateral sclerosis (FALS).
  
  
  METHODS
  The clinical data were collected from 40 FALS families from 2008 to 2011 and the mutations of VAPB gene screened in probands using polymerase chain reaction (PCR) and direct sequencing.
  
  
  RESULTS
  All 40 ALS families were of autosomal dominant inheritance. The male-to-female ratio of probands was 1:0.7 and the average onset age (49 ± 12) years. Upper limb onset accounted for 52.5%, lower limb onset 42.5% and bulbar onset 5.0%. No mutations were detected in VAPB gene.
  
  
  CONCLUSIONS
  VAPB mutations are not a common cause and ALS8 is rare in Chinese FALS.
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
authors.forename: Huagang
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Tang
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
authors.forename: Nan
authors.initials: N
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing 100191, China; Email: dsfan@sina.com.
authors.forename: Dongsheng
authors.initials: D
authors.lastname: Fan
mesh_terms: D000690:Amyotrophic Lateral Sclerosis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D033921:Vesicular Transport Proteins
chemical_list: C496748:VAPB protein, human; D033921:Vesicular Transport Proteins