Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X

Neurology. 2001 Jul 10;57(1):127-30. doi: 10.1212/wnl.57.1.127.

Abstract

The authors report five elderly men with the fragile X premutation who had a progressive action tremor associated with executive function deficits and generalized brain atrophy. These individuals had elevated fragile X mental retardation 1 gene (FMR1) messenger RNA and normal or borderline levels of FMR1 protein. The authors propose that elevations of FMR1 messenger RNA may be causative for a neurodegenerative syndrome in a subgroup of elderly men with the FMR1 premutation.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Atrophy
  • Brain / pathology
  • Brain Diseases / complications*
  • Brain Diseases / diagnosis
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / complications*
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / metabolism
  • Heterozygote*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Motivation*
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Parkinsonian Disorders / complications*
  • RNA, Messenger / metabolism
  • RNA-Binding Proteins*
  • Tremor / complications*

Substances

  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA, Messenger
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein