Podcasts and News Articles
"Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): An older face of the fragile X gene" video presentation by Paul Hagerman, professor in the Department of Biochemistry and Molecular Medicine at the University of California, Davis
A video from Neurology on a patient both pre- and post-DBS treatment to demonstrate FXTAS-linked tremor and ataxia
Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some but not all carriers of small, noncoding CGG-repeat expansions (55–200 repeats; premutation) within the fragile X gene (FMR1). Principal features of FXTAS include intention tremor, cerebellar ataxia, Parkinsonism, memory and executive function deficits, autonomic dysfunction, brain atrophy with white matter disease, and cognitive decline. Although FXTAS was originally considered to be confined to the premutation range, rare individuals with a gray zone (45–54 repeats) or an unmethylated full mutation (>200 repeats) allele have now been described, the constant feature of the disorder remaining the requirement for FMR1 expression, in contradistinction to the gene silencing mechanism of fragile X syndrome. Although transcriptional activity is required for FXTAS pathogenesis, the specific trigger(s) for FXTAS pathogenesis remains elusive, highlighting the need for more research in this area. This need is underscored by recent neuroimaging findings of changes in the central nervous system that consistently appear well before the onset of clinical symptoms, thus creating an opportunity to delay or prevent the appearance of FXTAS.
[Hagerman, P. J., & Hagerman, R. J. (2015). Fragile X–associated tremor/ataxia syndrome. Annals of the New York Academy of Sciences,1338(1), 58-70. ]
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