Tremor

Fragile X-Associated Tremor-Ataxia Syndrome

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Fragile X-Associated Tremor-Ataxia Syndrome, 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 18:393-8 [PubMed]