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

Katja Hedrich, Peter P. Pramstaller, Katrin Stübke, Anja Hiller, Kemal Kabakci, Sabine Purmann, Meike Kasten, Cesa Scaglione, Eberhard Schwinger, Jens Volkmann, Vladimir Kostic, Peter Vieregge, Paolo Martinelli, Giovanni Abbruzzese, Christine Klein, Christine Zühlke

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1060-1062
Number of pages3
JournalMovement Disorders
Volume20
Issue number8
DOIs
Publication statusPublished - Aug 2005

Keywords

  • CGG repeat
  • FMR1
  • Parkin mutation
  • Parkinsonism

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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