A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction

Mov Disord. 2006 Sep;21(9):1541-2. doi: 10.1002/mds.21037.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brain / pathology
  • DNA Mutational Analysis*
  • Essential Tremor / diagnosis*
  • Essential Tremor / genetics*
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / genetics*
  • Gait Ataxia / diagnosis*
  • Gait Ataxia / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Male
  • Middle Aged
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / genetics
  • Mitochondrial Encephalomyopathies / diagnosis*
  • Mitochondrial Encephalomyopathies / genetics*
  • Muscle, Skeletal / metabolism
  • Neurologic Examination
  • RNA, Messenger / genetics
  • Trinucleotide Repeats

Substances

  • RNA, Messenger
  • Fragile X Mental Retardation Protein