Article
C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.
Annals of human genetics - 1 Sept 2013
Nuytemans Karen, Bademci Güney, Kohli Martin M, Beecham Gary W, Wang Liyong, Young Juan I, Nahab Fatta, Martin Eden R, Gilbert John R, Benatar Michael, Haines Jonathan L, Scott William K, Züchner Stephan, Pericak-Vance Margaret A, Vance Jeffery M
Abstract excerpt
We set out to determine whether expansions in the C9ORF72 repeat found in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) families are associated with Parkinson disease (PD). We determined the repeat size in a total of 889 clinically ascertained patients (including PD and essential tremor plus Parkinsonism (ETP)) and 1144 controls using a repeat-primed PCR assay. We found that large C9ORF72...
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