title: Familial primary lateral sclerosis or dementia associated with Arg573GlyTBK1mutation.
authors.affiliation: Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: Estrella
authors.initials: E
authors.lastname: Gómez-Tortosa
authors.affiliation: Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.|Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
authors.forename: Julie
authors.initials: J
authors.lastname: Van der Zee
authors.affiliation: Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Ruggiero
authors.affiliation: Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.|Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
authors.forename: Ilse
authors.initials: I
authors.lastname: Gijselinck
authors.affiliation: ALS Unit, 12 de Octubre Hospital Health Research Institute 'imas12', and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain.
authors.forename: Jesús
authors.initials: J
authors.lastname: Esteban-Pérez
authors.affiliation: ALS Unit, 12 de Octubre Hospital Health Research Institute 'imas12', and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: García-Redondo
authors.affiliation: ALS Unit, 12 de Octubre Hospital Health Research Institute 'imas12', and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain.
authors.forename: Daniel
authors.initials: D
authors.lastname: Borrego-Hernández
authors.affiliation: Department of Neurology, Hospital Infanta Leonor, Madrid, Spain.
authors.forename: Eloísa
authors.initials: E
authors.lastname: Navarro
authors.affiliation: Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: M José
authors.initials: MJ
authors.lastname: Sainz
authors.affiliation: Department of Genetics, Secugen S.L., Madrid, Spain.
authors.forename: Julián
authors.initials: J
authors.lastname: Pérez-Pérez
authors.affiliation: Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.|Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
authors.forename: Marc
authors.initials: M
authors.lastname: Cruts
authors.affiliation: Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.|Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
authors.forename: Christine
authors.initials: C
authors.lastname: Van Broeckhoven
authors.affiliation: Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.|Instituto de Investigaciones Sanitarias Fundación Jiménez Díaz (IIS-FJD) and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
authors.forename: Rosa
authors.initials: R
authors.lastname: Guerrero-López
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005060:Europe; D005260:Female; D057180:Frontotemporal Dementia / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000235:genetics* / Q000523:psychology*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D017346:Protein Serine-Threonine Kinases; C403191:TBK1 protein, human
keywords: TBK1 gene; amyotrophic lateral sclerosis; frontotemporal lobar degeneration; genotype-phenotype correlations; primary lateral sclerosis