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

✍ Scribed by 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

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
66 KB
Volume
20
Category
Article
ISSN
0885-3185

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✦ Synopsis

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. © 2005 Movement Disorder Society

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