A Novel Susceptibility Locus in NFASC Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology
Garcia-Gonzalez, P.; Rodrigo Lara, H.; Compta, Y.; Fernandez, M.; van der Lee, S. J.; de Rojas, I.; Saiz, L.; Painous, C.; Camara, A.; Munoz, E.; Marti, M. J.; Valldeoriola, F.; Puerta, R.; Illan-Gala, I.; Pagonabarraga, J.; Dols-Icardo, O.; Kulisevsky, J.; Fortea, J.; Lleo, A.; Olive, C.; de Boer, S. C. M.; Hulsman, M.; Pijnenburg, Y. A. L.; Diaz Belloso, R.; Munoz-Delgado, L.; Buiza Rueda, D.; Gomez-Garre, P.; Aldecoa, I.; Aragones, G.; Hernandez Vara, J.; Mendioroz, M.; Perez-Tur, J.; Visser, P. J.; den Braber, A.; Papma, J. M.; Martin Montes, A.; Blazquez-Folch, J.; Miguel, A.; Garcia-Guti
Show abstract
We conducted the largest PSP GWAS of the Iberian population to date (522 cases from 22 Spanish and Portuguese institutions). We independently replicated seven known PSP risk variants, and unveiled a novel locus in NFASC/CNTN2 after meta-analysing our results with a newly available Dutch cohort and publicly available summary statistics. These findings highlight the importance of neuron-oligodendrocyte interactions in PSP etiopathology.
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