Detalle Publicación

ARTÍCULO
Assessing the role of TUBA4 gene in frontotemporal degeneration
Autores: Dols-Icardo, O.; Iborra, O.; Valdivia, J.; Pastor, P.; Ruiz, A.; López de Munain, A.; Sánchez-Valle, R.; Álvarez, V.; Sánchez-Juan, P.; Lleo, A.; Fortea, J.; Blesa, R.; Cardona, F.; Baquero, M.; Alonso, M. D.; Ortega Cubero, Sara; Pastor, María A.; Razquin Burillo, Cristina; Boada, M.; Hernández, I.; Gorostidi, A.; Moreno, F.; Zulaika, M.; Lladó, A.; Coto, E.; Combarros, O.; Pérez-Tur, J.; Clarimón, J.
Título de la revista: NEUROBIOLOGY OF AGING
ISSN: 0197-4580
Volumen: 38
Número: 1
Páginas: 215.e13 - 215.e14
Fecha de publicación: 2016
Resumen:
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.