Article
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.
Human molecular genetics - 1 Aug 2012
Coppola Giovanni, Chinnathambi Subashchandrabose, Lee Jason JiYong, Dombroski Beth A, Baker Matt C, Soto-Ortolaza Alexandra I, Lee Suzee E, Klein Eric, Huang Alden Y, Sears Renee, Lane Jessica R, Karydas Anna M, Kenet Robert O, Biernat Jacek, Wang Li-San, Cotman Carl W, Decarli Charles S, Levey Allan I, Ringman John M, Mendez Mario F, Chui Helena C, Le Ber Isabelle, Brice Alexis, Lupton Michelle K, Preza Elisavet, Lovestone Simon, Powell John, Graff-Radford Neill, Petersen Ronald C, Boeve Bradley F, Lippa Carol F, Bigio Eileen H, Mackenzie Ian, Finger Elizabeth, Kertesz Andrew, Caselli Richard J, Gearing Marla, Juncos Jorge L, Ghetti Bernardino, Spina Salvatore, Bordelon Yvette M, Tourtellotte Wallace W, Frosch Matthew P, Vonsattel Jean Paul G, Zarow Chris, Beach Thomas G, Albin Roger L, Lieberman Andrew P, Lee Virginia M, Trojanowski John Q, Van Deerlin Vivianna M, Bird Thomas D, Galasko Douglas R, Masliah Eliezer, White Charles L, Troncoso Juan C, Hannequin Didier, Boxer Adam L, Geschwind Michael D, Kumar Satish, Mandelkow Eva-Maria, Wszolek Zbigniew K, Uitti Ryan J, Dickson Dennis W, Haines Jonathan L, Mayeux Richard, Pericak-Vance Margaret A, Farrer Lindsay A, Ross Owen A, Rademakers Rosa, Schellenberg Gerard D, Miller Bruce L, Mandelkow Eckhard, Geschwind Daniel H
Abstract excerpt
Rare mutations in the gene encoding for tau (MAPT, microtubule-associated protein tau) cause frontotemporal dementia-spectrum (FTD-s) disorders, including FTD, progressive supranuclear palsy (PSP) and corticobasal syndrome, and a common extended haplotype spanning across the MAPT locus is associated with increased risk of PSP and Parkinson's disease. We identified a rare tau variant (p.A152T) in a patient with a...
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