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 language||English (US)|
|Number of pages||4|
|Journal||Chinese Journal of Medical Genetics|
|State||Published - Feb 10 2011|
- Fragile X-associated tremor/ataxia syndrome
- Intention tremor
ASJC Scopus subject areas