Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?

J Med Genet. 2005 Feb;42(2):e14. doi: 10.1136/jmg.2004.024190.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Brain / pathology
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / genetics
  • Female
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / genetics
  • Genetic Carrier Screening
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Paraparesis, Spastic / diagnosis*
  • Paraparesis, Spastic / genetics
  • Pedigree
  • Tremor / diagnosis*
  • Tremor / genetics

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein