Intrafamilial variability in fragile X-associated tremor/ataxia syndrome

Mov Disord. 2006 Jan;21(1):98-102. doi: 10.1002/mds.20673.

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive adult-onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor-like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Cerebellum / pathology
  • DNA Mutational Analysis
  • Deep Brain Stimulation
  • Female
  • Follow-Up Studies
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / diagnosis
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / therapy
  • Gait Apraxia / diagnosis
  • Gait Apraxia / genetics*
  • Gait Apraxia / therapy
  • Genetic Variation / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neurologic Examination
  • Pedigree
  • Sex Factors
  • Spinocerebellar Degenerations / diagnosis
  • Spinocerebellar Degenerations / genetics*
  • Spinocerebellar Degenerations / therapy
  • Tremor / diagnosis
  • Tremor / genetics*
  • Tremor / therapy
  • Trinucleotide Repeats / genetics

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein