Oriol Dols-Icardo, Oriol Iborra, Jessica Valdivia, Pau Pastor, Agustín Ruiz, Adolfo López de Munain, Raquel Sánchez-Valle, Victoria Álvarez, Pascual Sánchez-Juan, Alberto Lleó, Juan Fortea, Rafael Blesa, Fernando Cardona, Miquel Baquero, María Dolores Alonso, Sara Ortega-Cubero, María A Pastor, Cristina Razquin, Mercè Boada, Isabel Hernández, Ana Gorostidi, Fermín Moreno, Miren Zulaika, Albert Lladó, Eliecer Coto, Onofre Combarros, Jordi Pérez-Tur, Jordi Clarimón
The tubulin alpha 4a (TUBA4A) gene has been recently associated with amyotrophic lateral sclerosis. Interestingly, some of the mutation carriers were also diagnosed with frontotemporal degeneration (FTD) or mild cognitive impairment. With the aim to investigate the role of TUBA4A in FTD, we screened TUBA4A in a series of 814 FTD patients from Spain. Our data did not disclose any nonsense or missense variant in the cohort, thus suggesting that TUBA4A mutations are not associated with FTD.
February 2016: Neurobiology of Aging