Article
Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society - 1 May 2014
Nuytemans Karen, Inchausti Vanessa, Beecham Gary W, Wang Liyong, Dickson Dennis W, Trojanowski John Q, Lee Virginia M-Y, Mash Deborah C, Frosch Matthew P, Foroud Tatiana M, Honig Lawrence S, Montine Thomas J, Dawson Ted M, Martin Eden R, Scott William K, Vance Jeffery M
Abstract excerpt
BACKGROUND: We have reported that intermediate repeat lengths of the C9ORF72 repeat are a risk factor for Parkinson's disease (PD) in a clinically diagnosed data set. Because 10% to 25% of clinically diagnosed PD have different diagnoses upon autopsy, we hypothesized that this may reflect phenotypic heterogeneity or concomitant pathology of other neurodegenerative disorders. METHODS: We screened 488...
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