Recent research in fragile X-associated tremor/ataxia syndrome

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 inte...

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Bibliographic Details
Published in:Current opinion in neurobiology 2022-02, Vol.72, p.155-159
Main Authors: Salcedo-Arellano, Maria Jimena, Hagerman, Randi J.
Format: Article
Language:English
Subjects:
Ataxia - genetics
Ataxia - pathology
Female
Fragile X Mental Retardation Protein - genetics
Fragile X Syndrome - genetics
Humans
Male
Tremor - genetics
Tremor - pathology
Trinucleotide Repeat Expansion - genetics
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Summary: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. •Increased extra and intracellular deposits of iron are found in FXTAS brains.•The presence of microhemorrhages suggest microangiopathy as a feature of FXTAS.•Parkinsonism is common in FXTAS.•Upregulated proteins including SUMO1/2 suggest dysregulation of the UPS.
ISSN:0959-4388
1873-6882
DOI:10.1016/j.conb.2021.11.006