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Movement Disorders (revue)

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Absence of C9ORF72 expanded or intermediate repeats in autopsy confirmed Parkinson Disease

Identifieur interne : 000390 ( Pmc/Corpus ); précédent : 000389; suivant : 000391

Absence of C9ORF72 expanded or intermediate repeats in autopsy confirmed Parkinson Disease

Auteurs : Karen Nuytemans ; Vanessa Inchausti ; Gary W. Beecham ; Liyong Wang ; Dennis W. Dickson ; John Q. Trojanowski ; Virginia M.-Y. Lee ; Deborah C. Mash ; Matthew P. Frosch ; Tatiana M. Foroud ; Lawrence S. Honig ; Thomas J. Montine ; Ted M. Dawson ; Eden R. Martin ; William K. Scott ; Jeffery M. Vance

Source :

RBID : PMC:4022044

Abstract

Background

We have reported that intermediate repeat lengths of the C9ORF72 repeat are a risk factor for Parkinson Disease (PD) in a clinically- diagnosed dataset. As 10-25% of clinically diagnosed PD have different diagnoses upon autopsy, we hypothesized this may reflect phenotypic heterogeneity or concomitant pathology of other neurodegenerative disorders.

Methods

We screened 488 autopsy-confirmed PD cases for the expansion haplotype tag, rs3849942T. In 196 identified haplotype carriers, the C9ORF72 repeat was genotyped using the repeat-primed PCR assay.

Results

No 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).

Conclusions

Our 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.


Url:
DOI: 10.1002/mds.25838
PubMed: 24573903
PubMed Central: 4022044

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