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Fragile X-Associated Tremor-Ataxia SyndromeAka: FXTAS

Epidemiology
1. Affects 30% men with FRM1 premutation 50-60 years old
Mechanism
1. Related to Fragile-X mental retardation (FMR1) gene
Clinical findings
1. Progressive Intention Tremor with cerebellar ataxia
Presentation
1. Parkinsonism
2. Peripheral Neuropathy
3. Dementia after age 50 years
References
1. Baba (2005) Curr Opin Neurol 18:393

FRAGILE X TREMOR/ATAXIA SYNDROME (C1839780)
Concepts	Disease or Syndrome (T047)
English	FRAGILE X TREMOR/ATAXIA SYNDROME, FXTAS
Sources	OMIM Derived from the NIH UMLS (Unified Medical Language System)

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This page was written by Scott Moses, MD. This page was last revised before 5/10/08, prior to consistent tracking of revision date. This page was last published on 2/26/2010. Please send comments and questions to the editor. Contact information may be found on the page About the Family Practice Notebook. These pages are best viewed with Microsoft Internet Explorer 6.0.

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Fragile X-Associated Tremor-Ataxia SyndromeAka: FXTAS

FRAGILE X TREMOR/ATAXIA SYNDROME (C1839780)

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