title: [Analysis of fragile X mental retardation 1 gene premutation in multiple system atrophy patients].
abstract: OBJECTIVE
  To investigate whether Chinese multiple system atrophy (MSA) patients have premutation of fragile X mental retardation 1 gene(FMR1).
  
  
  METHODS
  FMR1 CGG repeats were analyzed in 157 MSA patients by polymerase chain reaction, agarose gel electrophoresis and capillary electrophoresis. The patients were collected from Movement Disorder & Neurogenetics Research Center of China-Japan friendship hospital. There were 83 male cases and 74 female cases, including 51 MSA-C patients, 12 MSA-P patients and 94 MSA-P+C patients.
  
  
  RESULTS
  No FMR1 CGG repeat premutation was detected in 157 MSA patients. The repeats ranged from 11-49, most common allele was 22. A MSA-C case carried 35/49 alleles did not have middle cerebellar peduncles(MCP) sign which was necessary for the diagnosis of fragile X associated tremor ataxia syndrome(FXTAS).
  
  
  CONCLUSIONS
  The FMR1 premutation in Chinese MSA patients might be very rare.
authors.affiliation: Movement Disorder & Neurogenetics Research Center, China-Japan Friendship Hospital, Beijing 100029, China.
authors.forename: Lin-wei
authors.initials: LW
authors.lastname: Zhang
authors.affiliation: Movement Disorder & Neurogenetics Research Center, China-Japan Friendship Hospital, Beijing 100029, China. Email: jane55.gu@vip.sina.com.
authors.forename: Wei-hong
authors.initials: WH
authors.lastname: Gu
authors.affiliation: Movement Disorder & Neurogenetics Research Center, China-Japan Friendship Hospital, Beijing 100029, China.
authors.forename: Guo-xiang
authors.initials: GX
authors.lastname: Wang
authors.affiliation: Movement Disorder & Neurogenetics Research Center, China-Japan Friendship Hospital, Beijing 100029, China.
authors.forename: Yuan-yuan
authors.initials: YY
authors.lastname: Chen
authors.affiliation: Movement Disorder & Neurogenetics Research Center, China-Japan Friendship Hospital, Beijing 100029, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Hao
authors.affiliation: Movement Disorder & Neurogenetics Research Center, China-Japan Friendship Hospital, Beijing 100029, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Movement Disorder & Neurogenetics Research Center, China-Japan Friendship Hospital, Beijing 100029, China.
authors.forename: Kang
authors.initials: K
authors.lastname: Wang
authors.affiliation: Movement Disorder & Neurogenetics Research Center, China-Japan Friendship Hospital, Beijing 100029, China.
authors.forename: Miao
authors.initials: M
authors.lastname: Jin
mesh_terms: D000483:Alleles; D001259:Ataxia / Q000235:genetics; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000235:genetics*; D009154:Mutation; D014202:Tremor / Q000235:genetics; D018911:Trinucleotide Repeats
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human