Fragile X tremor ataxia syndrome (FXTAS): investigations

Evidence-based neurology checklist on fragile x tremor ataxia syndrome (fxtas): investigations: Genetics This is caused by mutations in the Fragile X mental retardation 1 (FMR1) gene It is a CCG pre-mutation repeat expansion disorders Normal number of repeats is 55-200: ≥ 70 repeats are pathogenic…

Genetics

  • This is caused by mutations in the Fragile X mental retardation 1 (FMR1) gene
  • It is a CCG pre-mutation repeat expansion disorders
  • Normal number of repeats is 55-200: ≥ 70 repeats are pathogenic
  • The effect is due to a toxic gain of function

Pathology

Magnetic resonance imaging (MRI): features

References

  1. Leehey MA. Fragile X-associated tremor/ataxia syndrome (FXTAS): clinical phenotype, diagnosis and treatment. J Investig Med 2009; 57:830-836.
  2. Garcia-Arocena D, Hagerman PJ. Advances in understanding the molecular basis of FXTAS. Hum Mol Genet 2010; 19:R83-R89.
  3. Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol 2007; 6:45-55.
  4. Raske C, Hagerman PJ. Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome. J Investig Med 2009; 57:825-829.
  5. McLennan Y, Aliashrafzadeh H, Zirkelbach-Ngai F, et al. Oligodendrocyte inclusion pathology in fragile X-associated tremor/ataxia syndrome. Mov Disord 2025 (Online ahead of print).
  6. And 4 more. Subscribe to see the full list

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