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Investigation of C9orf72 repeat expansions in Parkinson's disease.
by:
Hussein Daoud ,
Anne Noreau ,
Daniel Rochefort ,
Gabriel Paquin-Lanthier ,
Maude Turcotte T. Gauthier ,
Pierre Provencher ,
Emmanuelle Pourcher ,
Nicolas Dupré ,
Sylvain Chouinard ,
Nicolas Jodoin ,
Valérie Soland ,
Edward A. Fon ,
Patrick A. Dion ,
Guy A. Rouleau
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Abstract
Large repeat expansions in the C9orf72 gene were recently reported to be a major cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Given some of the clinical and pathologic overlap between these 2 diseases and Parkinson's disease, we sought to evaluate the presence of these expansions in a cohort of French-Canadian patients with Parkinson's disease. No pathologic expansion was found in our cohort of patients suggesting that C9orf72 repeat expansions do not play a major role in the pathogenesis of Parkinson's disease. Copyright © 2013 Elsevier Inc. All rights reserved.
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