Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.
Oriol Dols-IcardoAlberto García-RedondoRicardo Rojas-GarcíaDaniel Borrego-HernándezIgnacio Illán-GalaJosé Luís Muñoz-BlancoAlberto RábanoLaura Cervera-CarlesAlexandra Juárez-RufiánNino SpataroNoemí De LunaLucía GalánElena Cortes-VicenteJuan ForteaRafael BlesaOriol Grau-RiveraAlberto LleóJesús Esteban-PérezEllen GelpiJordi ClarimónPublished in: Journal of neurology, neurosurgery, and psychiatry (2017)
Our results indicate a high genetic burden underlying the co-occurrence of ALS and FTD and expand the phenotype associated with TAF15, FIG4 and ERBB4 to FTD. A systematic screening of ALS and FTD genes could be indicated in patients manifesting both diseases without the C9orf72 expansion mutation, regardless of family history of disease.