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Fragile X-Associated Tremor-Ataxia Syndrome
Aka: Fragile X-Associated Tremor-Ataxia Syndrome, FXTAS- Epidemiology
- Affects 30% men with FRM1 premutation 50-60 years old
- Mechanism
- Related to Fragile-X Mental Retardation (FMR1) gene
- Clinical findings
- Progressive Intention Tremor with cerebellar Ataxia
- Presentation
- Parkinsonism
- Peripheral Neuropathy
- Dementia after age 50 years
- References