[Analysis of fragile X mental retardation 1 gene premutation in multiple system atrophy patients]

Zhonghua Yi Xue Za Zhi. 2013 Dec 17;93(47):3744-7.
[Article in Chinese]

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).

Conclusion: The FMR1 premutation in Chinese MSA patients might be very rare.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Ataxia / genetics
  • Female
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / genetics
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Multiple System Atrophy / genetics*
  • Mutation*
  • Tremor / genetics
  • Trinucleotide Repeats

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein

Supplementary concepts

  • Fragile X Tremor Ataxia Syndrome