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Genetics of Parkinson's disease.
Kumar, Kishore R.; Djarmati-Westenberger, Ana; Grünewald, Anne
2011In Seminars in Neurology, 31 (5), p. 433-40
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Keywords :
Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Mutation; Parkinson Disease/genetics/physiopathology
Abstract :
[en] The identification of genes contributing to Parkinson's disease (PD) has allowed for an improved understanding of the underlying pathogenesis of the disorder. The authors review the rapidly growing field of PD genetics, with a focus on the clinical, genetic, and pathophysiologic features of well-validated monogenic forms of PD caused by mutations in the SNCA, LRRK2, PARKIN, PINK1, DJ-1, and ATP13A2 genes. In addition, they discuss mutations in the GBA gene, which increase susceptibility for PD. The authors also evaluate the implications of genome-wide association studies and stem cell-derived disease models and give recommendations for genetic testing.
Disciplines :
Biochemistry, biophysics & molecular biology
Author, co-author :
Kumar, Kishore R.
Djarmati-Westenberger, Ana
Grünewald, Anne  
External co-authors :
yes
Language :
English
Title :
Genetics of Parkinson's disease.
Publication date :
2011
Journal title :
Seminars in Neurology
ISSN :
1098-9021
Publisher :
Thieme Medical Publishers, United States - New York
Volume :
31
Issue :
5
Pages :
433-40
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
(c) Thieme Medical Publishers.
Available on ORBilu :
since 09 February 2016

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