评估TUBA4A基因在额颞叶变性中的作用。
Assessing the role of TUBA4A gene in frontotemporal degeneration.
作者信息
Dols-Icardo Oriol, Iborra Oriol, Valdivia Jessica, Pastor Pau, Ruiz Agustín, López de Munain Adolfo, Sánchez-Valle Raquel, Álvarez Victoria, Sánchez-Juan Pascual, Lleó Alberto, Fortea Juan, Blesa Rafael, Cardona Fernando, Baquero Miquel, Alonso María Dolores, Ortega-Cubero Sara, Pastor María A, Razquin Cristina, Boada Mercè, Hernández Isabel, Gorostidi Ana, Moreno Fermín, Zulaika Miren, Lladó Albert, Coto Eliecer, Combarros Onofre, Pérez-Tur Jordi, Clarimón Jordi
机构信息
Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain.
Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
出版信息
Neurobiol Aging. 2016 Feb;38:215.e13-215.e14. doi: 10.1016/j.neurobiolaging.2015.10.030. Epub 2015 Nov 5.
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.
微管蛋白α4a（TUBA4A）基因最近被发现与肌萎缩侧索硬化症有关。有趣的是，一些该基因突变携带者也被诊断患有额颞叶变性（FTD）或轻度认知障碍。为了研究TUBA4A在FTD中的作用，我们对来自西班牙的814例FTD患者进行了TUBA4A基因筛查。我们的数据未在该队列中发现任何无义或错义变异，因此表明TUBA4A基因突变与FTD无关。
Zotero 插件