Article
Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.
Neurobiology of aging - 1 Jan 2014
Heckman Michael G, Elbaz Alexis, Soto-Ortolaza Alexandra I, Serie Daniel J, Aasly Jan O, Annesi Grazia, Auburger Georg, Bacon Justin A, Boczarska-Jedynak Magdalena, Bozi Maria, Brighina Laura, Chartier-Harlin Marie-Christine, Dardiotis Efthimios, Destée Alain, Ferrarese Carlo, Ferraris Alessandro, Fiske Brian, Gispert Suzana, Hadjigeorgiou Georgios M, Hattori Nobutaka, Ioannidis John P A, Jasinska-Myga Barbara, Jeon Beom S, Kim Yun Joong, Klein Christine, Kruger Rejko, Kyratzi Elli, Lin Chin-Hsien, Lohmann Katja, Loriot Marie-Anne, Lynch Timothy, Mellick George D, Mutez Eugénie, Opala Grzegorz, Park Sung Sup, Petrucci Simona, Quattrone Aldo, Sharma Manu, Silburn Peter A, Sohn Young Ho, Stefanis Leonidas, Tadic Vera, Tomiyama Hiroyuki, Uitti Ryan J, Valente Enza Maria, Vassilatis Demetrios K, Vilariño-Güell Carles, White Linda R, Wirdefeldt Karin, Wszolek Zbigniew K, Wu Ruey-Meei, Xiromerisiou Georgia, Maraganore Demetrius M, Farrer Matthew J, Ross Owen A
Abstract excerpt
The best validated susceptibility variants for Parkinson's disease are located in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the leucine-rich repeat kinase 2 (LRRK2) gene was identified, with p.R1398H appearing to be the most likely functional variant. To date, the consistency of the protective effect of LRRK2 p.R1398H...
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