Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in older premutation (55–200 CGG repeats) carriers of <i>FMR1.</i> The premutation has excessive levels of <i>FMR1</i> mRNA that lead to toxicity and mitochondrial dysfunction. The cl...

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Bibliographic Details
Main Authors: Ana Maria Cabal-Herrera, Nattaporn Tassanakijpanich, Maria Jimena Salcedo-Arellano, Randi J. Hagerman
Format: Article
Language:English
Published: MDPI AG 2020-06-01
Series:International Journal of Molecular Sciences
Subjects:
fragile X-associated tremor/ataxia syndrome (FXTAS)
<i>FMR1</i>
premutation
FMRP
ataxia
tremor
Online Access:https://www.mdpi.com/1422-0067/21/12/4391

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