Article
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
Nature communications - 16 Jun 2015
Kouri Naomi, Ross Owen A, Dombroski Beth, Younkin Curtis S, Serie Daniel J, Soto-Ortolaza Alexandra, Baker Matthew, Finch Ni Cole A, Yoon Hyejin, Kim Jungsu, Fujioka Shinsuke, McLean Catriona A, Ghetti Bernardino, Spina Salvatore, Cantwell Laura B, Farlow Martin R, Grafman Jordan, Huey Edward D, Ryung Han Mi, Beecher Sherry, Geller Evan T, Kretzschmar Hans A, Roeber Sigrun, Gearing Marla, Juncos Jorge L, Vonsattel Jean Paul G, Van Deerlin Vivianna M, Grossman Murray, Hurtig Howard I, Gross Rachel G, Arnold Steven E, Trojanowski John Q, Lee Virginia M, Wenning Gregor K, White Charles L, Höglinger Günter U, Müller Ulrich, Devlin Bernie, Golbe Lawrence I, Crook Julia, Parisi Joseph E, Boeve Bradley F, Josephs Keith A, Wszolek Zbigniew K, Uitti Ryan J, Graff-Radford Neill R, Litvan Irene, Younkin Steven G, Wang Li-San, Ertekin-Taner Nilüfer, Rademakers Rosa, Hakonarsen Hakon, Schellenberg Gerard D, Dickson Dennis W
Abstract excerpt
Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at MAPT (P=1.42 × 10(-12)), 8p12 at lnc-KIF13B-1, a long non-coding RNA...
Read the complete abstract on PubMed