title: Assessing the role of TUBA4A gene in frontotemporal degeneration.
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.
authors.affiliation: 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.
authors.forename: Oriol
authors.initials: O
authors.lastname: Dols-Icardo
authors.affiliation: Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Oriol
authors.initials: O
authors.lastname: Iborra
authors.affiliation: CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain; Molecular Genetics Unit, Institut de Biomedicina de València-CSIC, Valencia, Spain.
authors.forename: Jessica
authors.initials: J
authors.lastname: Valdivia
authors.affiliation: 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.
authors.forename: Pau
authors.initials: P
authors.lastname: Pastor
authors.affiliation: Alzheimer Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain.
authors.forename: Agustín
authors.initials: A
authors.lastname: Ruiz
authors.affiliation: 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.
authors.forename: Adolfo
authors.initials: A
authors.lastname: López de Munain
authors.affiliation: Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer, Barcelona, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Sánchez-Valle
authors.affiliation: Genetics Laboratory, AGC Medicine Laboratory, Hospital Universitario Central de Asturias, Oviedo, Spain.
authors.forename: Victoria
authors.initials: V
authors.lastname: Álvarez
authors.affiliation: 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.
authors.forename: Pascual
authors.initials: P
authors.lastname: Sánchez-Juan
authors.affiliation: 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.
authors.forename: Alberto
authors.initials: A
authors.lastname: Lleó
authors.affiliation: 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.
authors.forename: Juan
authors.initials: J
authors.lastname: Fortea
authors.affiliation: 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.
authors.forename: Rafael
authors.initials: R
authors.lastname: Blesa
authors.affiliation: 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.
authors.forename: Fernando
authors.initials: F
authors.lastname: Cardona
authors.affiliation: 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.
authors.forename: Miquel
authors.initials: M
authors.lastname: Baquero
authors.affiliation: Neurology Department, Hospital Clínic Universitari, València, Spain.
authors.forename: María Dolores
authors.initials: MD
authors.lastname: Alonso
authors.affiliation: 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.
authors.forename: Sara
authors.initials: S
authors.lastname: Ortega-Cubero
authors.affiliation: 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.
authors.forename: María A
authors.initials: MA
authors.lastname: Pastor
authors.affiliation: Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra School of Medicine, Pamplona, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Razquin
authors.affiliation: Alzheimer Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain.
authors.forename: Mercè
authors.initials: M
authors.lastname: Boada
authors.affiliation: Alzheimer Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Hernández
authors.affiliation: 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.
authors.forename: Ana
authors.initials: A
authors.lastname: Gorostidi
authors.affiliation: 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.
authors.forename: Fermín
authors.initials: F
authors.lastname: Moreno
authors.affiliation: 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.
authors.forename: Miren
authors.initials: M
authors.lastname: Zulaika
authors.affiliation: Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer, Barcelona, Spain.
authors.forename: Albert
authors.initials: A
authors.lastname: Lladó
authors.affiliation: Genetics Laboratory, AGC Medicine Laboratory, Hospital Universitario Central de Asturias, Oviedo, Spain.
authors.forename: Eliecer
authors.initials: E
authors.lastname: Coto
authors.affiliation: 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.
authors.forename: Onofre
authors.initials: O
authors.lastname: Combarros
authors.affiliation: 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.
authors.forename: Jordi
authors.initials: J
authors.lastname: Pérez-Tur
authors.affiliation: 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.
authors.forename: Jordi
authors.initials: J
authors.lastname: Clarimón
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014404:Tubulin / Q000235:genetics*
chemical_list: D014404:Tubulin
keywords: Amyotrophic lateral sclerosis; Frontotemporal degeneration; Genetics; TUBA4A