http://www.fpnotebook.com/

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)

Navigation Tree

Please see the Terms and Conditions. Please also see the privacy statement regarding advertising on this page. Although access to this page is not restricted, the information found here is intended for use by medical providers. Patients should address specific medical concerns with their physicians.

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 6/1/2008. 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.

Neurology Book

Action Tremor

Approach

Disability

Miscellaneous

Postural Tremor

Rest Tremor

Pharmacology Chapter related topics

Surgery Chapter related topics

http://www.fpnotebook.com/

Fragile X-Associated Tremor-Ataxia SyndromeAka: FXTAS

FRAGILE X TREMOR/ATAXIA SYNDROME (C1839780)

Navigation Tree