Assessing the role of TUBA4A gene in frontotemporal degeneration

The Dementia Genetics Spanish Consortium (DEGESCO)

doi:10.1016/j.neurobiolaging.2015.10.030

Assessing the role of TUBA4A gene in frontotemporal degeneration

The Dementia Genetics Spanish Consortium (DEGESCO)

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

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.

Original language	English (US)
Pages (from-to)	215.e13-215.e14
Journal	Neurobiology of Aging
Volume	38
DOIs	https://doi.org/10.1016/j.neurobiolaging.2015.10.030
State	Published - 2016
Externally published	Yes

Keywords

Amyotrophic lateral sclerosis
Frontotemporal degeneration
Genetics
TUBA4A

ASJC Scopus subject areas

General Neuroscience
Aging
Clinical Neurology
Developmental Biology
Geriatrics and Gerontology

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10.1016/j.neurobiolaging.2015.10.030

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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.",

keywords = "Amyotrophic lateral sclerosis, Frontotemporal degeneration, Genetics, TUBA4A",

author = "\{The Dementia Genetics Spanish Consortium (DEGESCO)\} and Oriol Dols-Icardo and Oriol Iborra and Jessica Valdivia and Pau Pastor and Agust{\'i}n Ruiz and \{de Munain\}, \{Adolfo L{\'o}pez\} and Raquel S{\'a}nchez-Valle and Victoria {\'A}lvarez and Pascual S{\'a}nchez-Juan and Alberto Lle{\'o} and Juan Fortea and Rafael Blesa and Fernando Cardona and Miquel Baquero and Alonso, \{Mar{\'i}a Dolores\} and Sara Ortega-Cubero and Pastor, \{Mar{\'i}a A.\} and Cristina Razquin and Merc{\`e} Boada and Isabel Hern{\'a}ndez and Ana Gorostidi and Ferm{\'i}n Moreno and Miren Zulaika and Albert Llad{\'o} and Eliecer Coto and Onofre Combarros and Jordi P{\'e}rez-Tur and Jordi Clarim{\'o}n",

note = "Publisher Copyright: {\textcopyright} 2016 Elsevier Inc.",

year = "2016",

doi = "10.1016/j.neurobiolaging.2015.10.030",

language = "English (US)",

volume = "38",

pages = "215.e13--215.e14",

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AU - The Dementia Genetics Spanish Consortium (DEGESCO)

AU - Dols-Icardo, Oriol

AU - Iborra, Oriol

AU - Valdivia, Jessica

AU - Pastor, Pau

AU - Ruiz, Agustín

AU - de Munain, Adolfo López

AU - Sánchez-Valle, Raquel

AU - Álvarez, Victoria

AU - Sánchez-Juan, Pascual

AU - Lleó, Alberto

AU - Fortea, Juan

AU - Blesa, Rafael

AU - Cardona, Fernando

AU - Baquero, Miquel

AU - Alonso, María Dolores

AU - Ortega-Cubero, Sara

AU - Pastor, María A.

AU - Razquin, Cristina

AU - Boada, Mercè

AU - Hernández, Isabel

AU - Gorostidi, Ana

AU - Moreno, Fermín

AU - Zulaika, Miren

AU - Lladó, Albert

AU - Coto, Eliecer

AU - Combarros, Onofre

AU - Pérez-Tur, Jordi

AU - Clarimón, Jordi

PY - 2016

Y1 - 2016

N2 - 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.

AB - 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.

KW - Amyotrophic lateral sclerosis

KW - Frontotemporal degeneration

KW - Genetics

KW - TUBA4A

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DO - 10.1016/j.neurobiolaging.2015.10.030

M3 - Article

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AN - SCOPUS:84949032721

SN - 0197-4580

VL - 38

SP - 215.e13-215.e14

JO - Neurobiology of Aging

JF - Neurobiology of Aging

ER -

Assessing the role of TUBA4A gene in frontotemporal degeneration

Abstract

Keywords

ASJC Scopus subject areas

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