Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation

J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):738-9. doi: 10.1136/jnnp.2007.139642.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alleles
  • Atrophy
  • Brain / pathology
  • Cerebellar Ataxia / diagnosis
  • Cerebellar Ataxia / genetics*
  • Cerebellum / pathology
  • Cerebral Ventricles / pathology
  • DNA Mutational Analysis*
  • Dementia / diagnosis
  • Dementia / genetics*
  • Female
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / diagnosis
  • Fragile X Syndrome / genetics*
  • Genetic Carrier Screening
  • Genotype
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Tomography, X-Ray Computed
  • Tremor / diagnosis
  • Tremor / genetics*
  • Trinucleotide Repeats

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein