[Fragile X-associated tremor/ataxia syndrome]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Feb;28(1):52-5. doi: 10.3760/cma.j.issn.1003-9406.2011.01.012.
[Article in Chinese]

Abstract

Fragile X-associated tremor/ataxia syndrome(FXTAS) is a neurodegenerative disease caused by FMR1 gene permutation(PM). The main clinical manifestations are intention tremor and/or ataxia, and the pathogenesis was related to RNA toxicity. In this paper, the research progress of clinical manifestatios, pathological characteristics, epidemiology and molecular mechanisms will be reviewed.

Publication types

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

MeSH terms

  • Ataxia / genetics*
  • Female
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Syndrome / complications
  • Fragile X Syndrome / diagnosis
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / pathology
  • Humans
  • Male
  • Tremor / genetics*

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein