Article
Rare variants in LRRK1 and Parkinson's disease.
Neurogenetics - 1 Mar 2014
Schulte Eva C, Ellwanger Daniel C, Dihanich Sybille, Manzoni Claudia, Stangl Katrin, Schormair Barbara, Graf Elisabeth, Eck Sebastian, Mollenhauer Brit, Haubenberger Dietrich, Pirker Walter, Zimprich Alexander, Brücke Thomas, Lichtner Peter, Peters Annette, Gieger Christian, Trenkwalder Claudia, Mewes Hans-Werner, Meitinger Thomas, Lewis Patrick A, Klünemann Hans H, Winkelmann Juliane
Abstract excerpt
Approximately 20 % of individuals with Parkinson's disease (PD) report a positive family history. Yet, a large portion of causal and disease-modifying variants is still unknown. We used exome sequencing in two affected individuals from a family with late-onset PD to identify 15 potentially causal variants. Segregation analysis and frequency assessment in 862 PD cases and 1,014 ethnically matched controls...
Topics
- Algorithms
- Cell Survival
- DNA Mutational Analysis
- Exome
- Family Health
- Female
- Gene Dosage
- Gene Frequency
- Genetic Predisposition to Disease