Recent research in fragile X-associated tremor/ataxia syndrome

Maria Jimena Salcedo-Arellano, Randi J. Hagerman

Research output: Contribution to journalReview articlepeer-review

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cytosine–guanine–guanine repeat expansion neurological disease that occurs in a subset of aging carriers of the premutation (55–200 cytosine–guanine–guanine repeats) in the FMR1 gene located on the X chromosome. The clinical core involves intention tremor and gait ataxia. Current research seeks to clarify the pathophysiology and neuropathology of FXTAS, as well as the development of useful biomarkers to track the progression of FXTAS. Efforts to implement quantitative measures of clinical features, such as kinematics and cognitive measures, are of special interest, in addition to characterize the differences in progression in males compared with females and the efficacy of new treatments.

Original languageEnglish (US)
Pages (from-to)155-159
Number of pages5
JournalCurrent Opinion in Neurobiology
Volume72
DOIs
StatePublished - Feb 2022

ASJC Scopus subject areas

  • Neuroscience(all)

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