Neurology Book

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Fragile X-Associated Tremor-Ataxia Syndrome

Aka: Fragile X-Associated Tremor-Ataxia Syndrome, FXTAS
  1. Epidemiology
    1. Affects 30% men with FRM1 premutation 50-60 years old
  2. Mechanism
    1. Related to Fragile-X Mental Retardation (FMR1) gene
  3. Clinical findings
    1. Progressive Intention Tremor with cerebellar Ataxia
  4. Presentation
    1. Parkinsonism
    2. Peripheral Neuropathy
    3. Dementia after age 50 years
  5. References
    1. Baba (2005) Curr Opin Neurol 18:393-8 [PubMed]

FRAGILE X TREMOR/ATAXIA SYNDROME (C1839780)

Concepts Disease or Syndrome (T047)
MSH C564105, C580109
SnomedCT 448045004
English FXTAS, FRAGILE X TREMOR/ATAXIA SYNDROME, Fragile X associated tremor ataxia syndrome (disorder), Fragile X associated tremor ataxia syndrome, Fragile X Tremor Ataxia Syndrome, Fragile X-Associated Tremor/Ataxia Syndrome, Fragile X Tremor/Ataxia Syndrome, Fxtas
Spanish síndrome de temblor y ataxia asociado al cromosoma X frágil, síndrome de temblor y ataxia asociado al cromosoma X frágil (trastorno)
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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