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Neurobiol Aging. 2016 Feb;38:215.e13-215.e14. doi: 10.1016/j.neurobiolaging.2015.10.030. Epub 2015 Nov 5.

Assessing the role of TUBA4A gene in frontotemporal degeneration.

Author information

1
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.
2
Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
3
CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Molecular Genetics Unit, Institut de Biomedicina de València-CSIC, Valencia, Spain.
4
CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Memory and Movement Disorders Units, Department of Neurology, University Hospital Mútua de Terrassa, University of Barcelona School of Medicine, Barcelona, Spain; Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra School of Medicine, Pamplona, Spain.
5
Alzheimer Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain.
6
CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neuroscience Area, Institute Biodonostia, and Department of Neurosciences, University of Basque Contry EHU-UPV, San Sebastián, Spain.
7
Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer, Barcelona, Spain.
8
Genetics Laboratory, AGC Medicine Laboratory, Hospital Universitario Central de Asturias, Oviedo, Spain.
9
CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neurology Department, University Hospital Marqués de Valdecilla, Instituto de Investigación Marqués de Valdecilla (IDIVAL), Santander, Spain.
10
CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Molecular Genetics Unit, Institut de Biomedicina de València-CSIC, Valencia, Spain; Neurology and Molecular Genetics Mixed Investigation Unit, Instituto de Investigación Sanitaria La Fe, València, Spain.
11
Neurology and Molecular Genetics Mixed Investigation Unit, Instituto de Investigación Sanitaria La Fe, València, Spain; Neurology Department, La Fe University and Polytechnical Hospital, València, Spain.
12
Neurology Department, Hospital Clínic Universitari, València, Spain.
13
CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra School of Medicine, Pamplona, Spain.
14
CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Neuroimaging Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain; Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain.
15
Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra School of Medicine, Pamplona, Spain.
16
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. Electronic address: jclarimon@santpau.cat.

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.

KEYWORDS:

Amyotrophic lateral sclerosis; Frontotemporal degeneration; Genetics; TUBA4A

[Indexed for MEDLINE]

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