Absence of C9ORF72 Expanded or Intermediate Repeats in Autopsy-Confirmed Parkinson's Disease

作者：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^*

来源：Movement Disorders, 2014, 29(6): 827-830.

DOI：10.1002/mds.25838

• autopsy confirmed
• Parkinson's disease
• C9ORF72 repeat
• parkinsonism

BackgroundWe 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.
MethodsWe screened 488 autopsy-confirmed PD cases for expansion haplotype tag rs3849942T. In 196 identified haplotype carriers, the C9ORF72 repeat was genotyped using the repeat-primed polymerase chain reaction assay.
ResultsNo larger (intermediate or expanded) repeats were found in these autopsy-confirmed PD samples. This absence of larger repeats is significantly different from the frequency in clinically diagnosed datasets (P=0.002).
ConclusionsOur results suggest that expanded or intermediate C9ORF72 repeats in clinically diagnosed PD or parkinsonism might be an indication of heterogeneity in clinically diagnosed PD cases. Further studies are needed to elucidate the potential contribution of the C9ORF72 repeat to autopsy-confirmed PD.

• 出版日期2014-5