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Elsevier, Neurobiology of Aging, (38), p. 215.e13-215.e14, 2016

DOI: 10.1016/j.neurobiolaging.2015.10.030

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Assessing the Role of TUBA4A Gene in Frontotemporal Degeneration

Journal article published in 2015 by de Munain Al, Miren Zulaica, Oriol Dols-Icardo ORCID, Oriol Iborra ORCID, Jessica Valdivia, Pau Pastor, Adolfo López de Munain, Agustı́n Ruiz, Adolfo López de Munain, Juan Fortea ORCID, Raquel Sánchez-Valle ORCID, Miquel Baquero, Victoria Álvarez ORCID, Rafael Blesa, María Dolores Alonso and other authors.
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Abstract

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.