Article
Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1.
Annals of neurology - 1 May 2005
Ros Raquel, Gómez Garre Pilar, Hirano Michio, Tai Yen F, Ampuero Israel, Vidal Lídice, Rojo Ana, Fontan Aurora, Vazquez Ana, Fanjul Samira, Hernandez Jaime, Cantarero Susana, Hoenicka Janet, Jones Alison, Ahsan R Laila, Pavese Nicola, Piccini Paola, Brooks David J, Perez-Tur Jordi, Nyggard Torbjorn, de Yébenes Justo G
Abstract excerpt
Progressive supranuclear palsy (PSP) is a disorder of unknown pathogenesis. Familial clusters of PSP have been reported related to mutations of protein tau. We report the linkage of a large Spanish family with typical autosomal dominant PSP to a new locus in chromosome 1. Four members of this family had typical PSP, confirmed by neuropathology in one case. At least five ancestors had similar disease. Other...
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