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Amaya Lavín on Muck Rack

Amaya Lavín

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A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC - European Journal of Human Genetics

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By Pablo García-González, Itziar de Rojas, Laura Saiz, Raquel Puerta, Javier Pagonabarraga, Oriol Dols-Icardo, Jaime Kulisevsky, Juan Fortea, Alberto Lleó, Claudia Olive, Marc Hulsman, Laura Muñoz-Delgado, Iban Aldecoa, Maite Mendioroz, Jordi Pérez-Tur, Pieter Jelle Visser, Angel Martín Montes, Josep Blazquez-Folch, Marta Marquié, María Capdevila-Bayo, Luis M. Real, Soledad Lopez Verified, Amaya Lavín, Ricardo Taipa, Marta Fernández-Matarrubia, Victoria Alvarez, Laura Molina-Porcel, Henne Holstege, Pablo Mir, Olivia Belbin, Mercè Boada, Maria Bullido, Alberto Rábano
| Nature Verified
Abstract Progressive supranuclear palsy (PSP) is a rare 4-repeat tauopathy that causes behavioural, movement and cognitive abnormalities. We genotyped all available clinical and histopathological PSP cases in Spain and Portugal (N = 522), and conducted the largest PSP GWAS of the Iberian population to date. Genetic burden analysis revealed reduced diagnostic specificity in clinically diagnosed atypical PSP cases—when applying the 2017 MDS criteria—compared to Richardson’s syndrome cases.
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