Fragile X-associated tremor/ataxia syndrome

Wei Wei Han, Lin Zhang, Hong Jiang, Bei Sha Tang

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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 manifestations, pathological characteristics, epidemiology and molecular mechanisms will be reviewed.

Original languageEnglish (US)
Pages (from-to)52-55
Number of pages4
JournalChinese Journal of Medical Genetics
Volume28
Issue number1
DOIs
StatePublished - Feb 10 2011

Keywords

  • Ataxia
  • Fragile X-associated tremor/ataxia syndrome
  • Intention tremor
  • Permutation

ASJC Scopus subject areas

  • Genetics(clinical)

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