Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

Mov Disord. 2005 Aug;20(8):1060-2. doi: 10.1002/mds.20512.

Abstract

Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • DNA Mutational Analysis
  • Female
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics*
  • Genetic Linkage / genetics*
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / genetics*
  • Parkinson Disease / pathology
  • RNA, Messenger / biosynthesis
  • RNA-Binding Proteins / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Sex Factors
  • Trinucleotide Repeats / genetics
  • Ubiquitin-Protein Ligases / genetics*

Substances

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