Article
Copy number variation in familial Parkinson disease.
PloS one - 1 Jan 2011
Pankratz Nathan, Dumitriu Alexandra, Hetrick Kurt N, Sun Mei, Latourelle Jeanne C, Wilk Jemma B, Halter Cheryl, Doheny Kimberly F, Gusella James F, Nichols William C, Myers Richard H, Foroud Tatiana, DeStefano Anita L
Abstract excerpt
Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single missense mutation) may increase risk for PD. We recently performed a genome-wide association study for PD that excluded individuals known to have either a LRRK2...
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