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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
GCH1 in early-onset Parkinson's disease
Movement Disorders, Volume 24, No. 14, Year 2009
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Description
Mutations in GTP-cyclohydrolase 1 (GCH1) cause autosomal dominant dopa-responsive dystonia (DRD), characterized by childhood-onset foot dystonia that later generalizes. DRD patients frequently present with associated Parkinsonism. Conversely, early-onset Parkinson's disease (EOPD) patients commonly display dystonia. Herein, we investigated the frequency of GCH1 mutations in a series of 53 familial EOPD patients (21 with dystonia) and screened them for mutations in PRKN, PINK1, and DJ-1. In addition, we examined a matched EOPD patient-control series for association of common variability at the GCH1 locus and EOPD susceptibility. No GCH1 coding change or copy-number abnormality was identified in familial EOPD patients. A novel 18-bp deletion was found in the proximal promoter (two patients, one control), which is expected to knock out two regulatory elements previously shown to regulate GCH1 transcription. No association was found between GCH1 variability and risk of EOPD. Fourteen (26.4%) familial EOPD patients had homozygous or compound heterozygous PRKN mutations. PRKN-positive patients were 10 years younger than PRKNnegative patients and had a twofold higher prevalence of dystonia. This study does not support a significant role for genetic variation at the GCH1 locus in EOPD. However, our results further highlight the relevance of PRKN screening in familial EOPD. © 2009 Movement Disorder Society.
Authors & Co-Authors
Cobb, Stephanie A.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Wider, Christian
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Ross, Owen A.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Mata, I. F.
United States, Seattle
University of Washington School of Medicine
Adler, Charles H.
United States, Scottsdale
Mayo Clinic Scottsdale-phoenix, Arizona
Rajput, Alex H.
Canada, Saskatoon
Royal University Hospital
Rajput, Ali H.
Canada, Saskatoon
Royal University Hospital
Wu, Ruey Meei
Taiwan, Taipei
National Taiwan University Hospital
Hauser, Robert A.
United States, Tampa
University of South Florida, Tampa
Josephs, Keith Anthony
United States, Rochester
Mayo Clinic
Carr, Jonathan A.
South Africa, Tygerberg
Tygerberg Hospital
Gwinn-Hardy, Katrina A.
United States, Houston
Baylor College of Medicine
Heckman, Michael G.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Aasly, Jan Olav
Norway, Trondheim
Norges Teknisk-naturvitenskapelige Universitet
Lynch, Timothy L.
Ireland, Dublin
Mater Misericordiae University Hospital
Uitti, Ryan J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Wszołek, Zbigniew K.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Kapatos, Gregory
United States, Detroit
Wayne State University School of Medicine
Farrer, Matthew J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Statistics
Citations: 28
Authors: 19
Affiliations: 12
Identifiers
Doi:
10.1002/mds.22729
ISSN:
08853185
e-ISSN:
15318257
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Study Design
Cross Sectional Study