Assessing the role of TUBA4A gene in frontotemporal degeneration

Oriol Dols-Icardo; Oriol Iborra; Jessica Valdivia; Pau Pastor; Agustín Ruiz; Adolfo López de Munain; Raquel Sánchez-Valle; Victoria Álvarez; Pascual Sánchez-Juan; Alberto Lleó; Juan Fortea; Rafael Blesa; Fernando Cardona; Miquel Baquero; María Dolores Alonso; Sara Ortega-Cubero; María A Pastor; Cristina Razquin; Mercè Boada; Isabel Hernández; Ana Gorostidi; Fermín Moreno; Miren Zulaika; Albert Lladó; Eliecer Coto; Onofre Combarros; Jordi Pérez-Tur; Jordi Clarimón; Dementia Genetics Spanish Consortium (DEGESCO)

doi:10.1016/j.neurobiolaging.2015.10.030

Assessing the role of TUBA4A gene in frontotemporal degeneration

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

Authors

Oriol Dols-Icardo¹, Oriol Iborra², Jessica Valdivia³, Pau Pastor⁴, Agustín Ruiz⁵, Adolfo López de Munain⁶, Raquel Sánchez-Valle⁷, Victoria Álvarez⁸, Pascual Sánchez-Juan⁹, Alberto Lleó¹, Juan Fortea¹, Rafael Blesa¹, Fernando Cardona¹⁰, Miquel Baquero¹¹, María Dolores Alonso¹², Sara Ortega-Cubero¹³, María A Pastor¹⁴, Cristina Razquin¹⁵, Mercè Boada⁵, Isabel Hernández⁵, Ana Gorostidi⁶, Fermín Moreno⁶, Miren Zulaika⁶, Albert Lladó⁷, Eliecer Coto⁸, Onofre Combarros⁹, Jordi Pérez-Tur¹⁰, Jordi Clarimón¹⁶; Dementia Genetics Spanish Consortium (DEGESCO)

Affiliations

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.

PMID: 26675813
DOI: 10.1016/j.neurobiolaging.2015.10.030

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Aged, 80 and over
Amyotrophic Lateral Sclerosis / genetics
Cohort Studies
Female
Frontotemporal Dementia / genetics*
Genetic Association Studies*
Heterozygote
Humans
Male
Middle Aged
Mutation*
Tubulin / genetics*

Substances

Tubulin