Absence of C9ORF72 expanded or intermediate repeats in autopsy‐confirmed Parkinson's disease
Year: 2014
Type: article
Study design: Observational Study
Abstract: 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 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. 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.
Source: Movement Disorders
DOI: 10.1002/mds.25838
Institutions: University of Miami, Dr. John T. Macdonald Foundation, Mayo Clinic in Florida, University of Pennsylvania, Harvard University, Massachusetts General Hospital, Indiana University Indianapolis, Indiana University School of Medicine, University of Washington, Johns Hopkins University, Johns Hopkins Medicine
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Awards: G1017046091, G104586243, G1192160385, G1260893416, G1309605592, G1320565832, Indiana Alzheimer Disease Center, G1359833195, G1842180014, G1859882300, G2079654663, G2227922493, G2363791470, Indiana Clinical and Translational Sciences Institute, Epidemiology of Dementia In An Urban Community, G2850991870, G2957681590, G2984989008, G3268693281, G3590958766, G3677674694, Parkinson's Disease and Dementia, G3919444319, Einstein Aging Study, G413369726, G4230088115, Alzheimer's Disease Core Center, G4454150039, Frontotemporal Dementias: Genotypes and Phenotypes, G4849756124, MGH/MIT MORRIS UDALL CENTER OF EXCELLENCE IN PD RESEARCH, G5667409946, Alzheimer's Disease Neuroimaging Initiative, Morris K. Udall Centers of Excellence for Parkinson's Disease Research (P50), G611802359, G6464114073, G690693141, G801680829, G807536817, G859153142, TDP-43 Proteinopathies in ALS-Dementia, G8964165459, Alzheimer's Disease Neuroimaging Initiative (ADNI4), National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD), Mayo Alzheimer's Disease Research Center
OpenAlex ID: W1934498182