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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Characterization of DCTN1 genetic variability in neurodegeneration
Neurology, Volume 72, No. 23, Year 2009
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Description
OBJECTIVE:: Recently, mutations in DCTN1 were found to cause Perry syndrome, a parkinsonian disorder with TDP-43-positive pathology. Previously, mutations in DCTN1 were identified in a family with lower motor neuron disease, in amyotrophic lateral sclerosis (ALS), and in a family with ALS/frontotemporal dementia (FTD), suggesting a central role for DCTN1 in neurodegeneration. METHODS:: In this study we sequenced all DCTN1 exons and exon-intron boundaries in 286 samples diagnosed with Parkinson disease (PD), frontotemporal lobar degeneration (FTLD), or ALS. RESULTS:: This analysis revealed 36 novel variants (9 missense, 5 silent, and 22 noncoding). Segregation analysis in families and association studies in PD, FTLD, and ALS case-control series did not identify any variants segregating with disease or associated with increased disease risk. CONCLUSIONS:: This study suggests that pathogenic mutations in DCTN1 are rare and do not play a common role in the development of Parkinson disease, frontotemporal lobar degeneration, or amyotrophic lateral sclerosis. © 2009 by AAN Enterprises, Inc.
Authors & Co-Authors
Vilarino-Guell, Carles
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Wider, Christian
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Soto-Ortolaza, Alexandra I.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Cobb, Stephanie A.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Kachergus, Jennifer M.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Keeling, Brett H.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Dächsel, Justus C.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Hulihan, Mary M.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Dickson, Dennis W.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Wszołek, Zbigniew K.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Uitti, Ryan J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Graff-Radford, Neill R.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Boeve, Bradley Bradley
United States, Rochester
Mayo Clinic
Josephs, Keith Anthony
United States, Rochester
Mayo Clinic
Miller, Bruce L.
United States, San Francisco
University of California, San Francisco
Boylan, Kevin B.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Gwinn-Hardy, Katrina A.
United States, Houston
Baylor College of Medicine
Adler, Charles H.
United States, Scottsdale
Mayo Clinic Scottsdale-phoenix, Arizona
Aasly, Jan Olav
Norway, Trondheim
Norges Teknisk-naturvitenskapelige Universitet
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Destée, Alain
France, Lille
Movement Disorder Clinic
Krygowska-Wajs, Anna
Poland, Krakow
Uniwersytet Jagielloński
Chartier-Harlin, Marie Christine
France, Lille
Movement Disorder Clinic
Ross, Owen A.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Rademakers, Rosa V.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Farrer, Matthew J.
United States, Jacksonville
Mayo Clinic in Jacksonville, Florida
Statistics
Citations: 58
Authors: 26
Affiliations: 9
Identifiers
Doi:
10.1212/WNL.0b013e3181a92c4c
ISSN:
00283878
e-ISSN:
1526632X
Research Areas
Genetics And Genomics
Mental Health
Study Design
Case-Control Study