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

*Corresponding author for this work
23 Citations (Scopus)

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
JournalMovement Disorders
Volume20
Issue number8
Pages (from-to)1060-1062
Number of pages3
ISSN0885-3185
DOIs
Publication statusPublished - 01.08.2005

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