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TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

J. van der Zee, I. Gijselinck, S. Van Mossevelde, F. Perrone, L. Dillen, B. Heeman, V. Bäumer, S. Engelborghs, J. De Bleecker, J. Baets, E. Gelpi, R. Rojas-García, J. Clarimón, A. Lleó, J. Diehl-Schmid, P. Alexopoulos, R. Perneczky, M. Synofzik,...

. 2017 ; 38 (3) : 297-309. [pub] 20170119

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc18016843

We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. We assessed pathogenicity of predicted protein-truncating mutations by measuring loss of RNA expression. Functional effect of in-frame amino acid deletions and missense mutations was further explored in vivo on protein level and in vitro by an NFκB-induced luciferase reporter assay and measuring phosphorylated TBK1. The protein-truncating mutations led to the loss of transcript through nonsense-mediated mRNA decay. For the in-frame amino acid deletions, we demonstrated loss of TBK1 or phosphorylated TBK1 protein. An important fraction of the missense mutations compromised NFκB activation indicating that at least some functions of TBK1 are lost. Although missense mutations were also present in controls, over three times more mutations affecting TBK1 functioning were found in the mutation fraction observed in patients only, suggesting high-risk alleles (P = 0.03). Total mutation frequency for confirmed TBK1 LoF mutations in the European cohort was 0.7%, with frequencies in the clinical subgroups of 0.4% in FTD, 1.3% in ALS, and 3.6% in FTD-ALS.

Center for Molecular Neurology VIB Antwerp Belgium Antwerp University Hospital Edegem

Center for Molecular Neurology VIB Antwerp Belgium CIBERNED Instituto de Salud Carlos 3 Madrid Spain Deparment of Neurology Complejo Asistencial Universitario de Palencia Palencia Spain

Center for Molecular Neurology VIB Antwerp Belgium Department of Neurosciences Psychology Drug Research and Child Health University of Florence Florence Italy

Center for Molecular Neurology VIB Antwerp Belgium Fundació ACE Institut Català de Neurociències Aplicades Barcelona Spain

Center for Molecular Neurology VIB Antwerp Belgium General Hospital Glorieux Ronse

Center for Molecular Neurology VIB Antwerp Belgium General Hospital Sint Jan Brugge Bruges

Center for Molecular Neurology VIB Antwerp Belgium General Hospital Sint Maria Halle

Center for Molecular Neurology VIB Antwerp Belgium Hertie Institute for Clinical Brain Research Tübingen Germany

Center for Molecular Neurology VIB Antwerp Belgium Hôpitaux Universitaires de Genève et Université de Genève Genève Switzerland and IRCCS Fatebenefratelli Brescia Italy

Center for Molecular Neurology VIB Antwerp Belgium Hospital Clínic IDIBAPS Barcelona Spain

Center for Molecular Neurology VIB Antwerp Belgium Hospital Network Antwerp Antwerp

Center for Molecular Neurology VIB Antwerp Belgium Institute Born Bunge University of Antwerp Antwerp Belgium

Center for Molecular Neurology VIB Antwerp Belgium Institute Born Bunge University of Antwerp Antwerp Belgium Department of Biochemistry Molecular Medicine Center Medical University Sofia Sofia Bulgaria

Center for Molecular Neurology VIB Antwerp Belgium Institute Born Bunge University of Antwerp Antwerp Belgium Department of Neurology Antwerp University Hospital Edegem Belgium

Center for Molecular Neurology VIB Antwerp Belgium IRCCS Don Carlo Gnocchi Scandicci Florence Italy

Center for Molecular Neurology VIB Antwerp Belgium Jessa Hospital Hasselt

Center for Molecular Neurology VIB Antwerp Belgium MAC Memory Center and Molecular Markers Laboratory IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli Brescia Italy

Center for Molecular Neurology VIB Antwerp Belgium Medical University of Vienna Vienna Austria

Center for Molecular Neurology VIB Antwerp Belgium Molecular Markers Laboratory IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli Brescia Italy

Center for Molecular Neurology VIB Antwerp Belgium NeuroRARE Centre for Rare and Genetic Neurological and Neuromuscular Diseases and Neurogenetics Athens Greece

Center for Molecular Neurology VIB Antwerp Belgium Saint Luc University Hospital Brussels

Center for Molecular Neurology VIB Antwerp Belgium Thomayer Hospital Prague and Charles University Prague Czech Republic

Center for Molecular Neurology VIB Antwerp Belgium University Hospital Brussels Brussels

Center for Molecular Neurology VIB Antwerp Belgium University Hospital Ghent Ghent

Center for Molecular Neurology VIB Antwerp Belgium University Hospital Mútua de Terrassa and Fundació Docència i Recerca Mútua Terrassa University of Barcelona School of Medicine Terrassa Barcelona Spain CIBERNED Instituto de Salud Carlos 3 Madrid Spain

Center for Molecular Neurology VIB Antwerp Belgium University Hospitals Leuven Gasthuisberg Leuven

Center for Molecular Neurology VIB Antwerp Belgium University of Coimbra Coimbra Portugal

Center for Molecular Neurology VIB Antwerp Belgium University of Liège and Memory Clinic CHU Liège Liège

Center for Molecular Neurology VIB Antwerp Belgium University of Verona Verona Italy

Department of Cognitive Science and Psychology New Bulgarian University Sofia Bulgaria

Department of Neurobiology Care Sciences and Society KI Alzheimer Disease Research Center Karolinska Institutet Stockholm Sweden Department of Geriatric Medicine Genetics unit Karolinska University Hospital Stockholm Sweden

Department of Neurodegeneration Hertie Institute for Clinical Brain Research and Centre of Neurology Tübingen Germany German Research Center for Neurodegenerative Diseases Tübingen Germany

Department of Neurology Fundación Jiménez Díaz Madrid Spain

Department of Neurology IIB Sant Pau Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain

Department of Neurology IIB Sant Pau Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain Center for Networker Biomedical Research in Neurodegenerative Diseases Madrid Spain

Department of Neurology Ludwig Maximilians Universität München Munich Germany German Center for Neurodegenerative Diseases Munich Germany

Department of Neurology Medical University Sofia Sofia Bulgaria

Department of Neurology University Hospital Ghent and University of Ghent Ghent Belgium

Department of Neurosciences Faculty of Medicine KU Leuven Leuven Belgium Department of Neurology University Hospitals Leuven Leuven Belgium

Department of Psychiatry and Psychotherapy Technische Universität München München Germany

Department of Psychiatry and Psychotherapy Technische Universität München München Germany Neuroepidemiology and Ageing Research Unit School of Public Health The Imperial College of Science Technology and Medicine London UK West London Cognitive Disorders Treatment and Research Unit West London Mental Health Trust London TW8 8DS UK

Department of Psychiatry and Psychotherapy University of Bonn Bonn Germany Department of Psychiatry and Psychotherapy University of Cologne Cologne Germany German Center for Neurodegenerative Diseases Bonn Germany

Department of Psychiatry and Psychotherapy University of Bonn Bonn Germany Institute of Human Genetics University of Bonn Bonn Germany Department of Psychiatry and Psychotherapy University of Cologne Cologne Germany

German Center for Neurodegenerative Diseases Bonn Germany Clinical Neuroscience Unit Department of Neurology University of Bonn Bonn Germany

Hospital Santa Maria Lisbon Portugal Faculty of Medicine and Institute of Molecular Medicine University of Lisbon Lisbon Portugal

Institute Born Bunge University of Antwerp Antwerp Belgium Department of Neurology and Memory Clinic Hospital Network Antwerp Middelheim and Hoge Beuken Antwerp Belgium

Institute Born Bunge University of Antwerp Antwerp Belgium Department of Neurology Antwerp University Hospital Edegem Belgium

Neurological Tissue Bank of the Biobanc Hospital Clinic Institut d'Investigacions Biomediques August Pi i Sunyer Barcelona Spain

Neurology Unit University of Brescia Brescia Italy

Citace poskytuje Crossref.org

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700    1_
$a Schöls, Ludger $u Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, Tübingen, Germany. German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
700    1_
$a Graff, Caroline $u Department of Neurobiology, Care Sciences and Society (NVS), KI-Alzheimer Disease Research Center, Karolinska Institutet, Stockholm, Sweden. Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden.
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$a Thonberg, Håkan $u Department of Neurobiology, Care Sciences and Society (NVS), KI-Alzheimer Disease Research Center, Karolinska Institutet, Stockholm, Sweden. Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden.
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$a Jordanova, Albena $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. Department of Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia, Bulgaria.
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$a Sarafov, Stayko $u Department of Neurology, Medical University-Sofia, Sofia, Bulgaria.
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$a Tournev, Ivailo $u Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.
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$a de Mendonça, Alexandre $u Hospital Santa Maria, Lisbon, Portugal. Faculty of Medicine and Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal.
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$a Miltenberger-Miltényi, Gabriel $u Hospital Santa Maria, Lisbon, Portugal. Faculty of Medicine and Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal.
700    1_
$a Simões do Couto, Frederico $u Hospital Santa Maria, Lisbon, Portugal. Faculty of Medicine and Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal.
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$a Ramirez, Alfredo $u Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany. Institute of Human Genetics, University of Bonn, Bonn, Germany. Department of Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany.
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$a Jessen, Frank $u Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany. Department of Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany. German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
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$a Heneka, Michael T $u German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany. Clinical Neuroscience Unit, Department of Neurology, University of Bonn, Bonn, Germany.
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700    1_
$a Danek, Adrian $u Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany. German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
700    1_
$a Cras, Patrick $u Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. Department of Neurology, Antwerp University Hospital, Edegem, Belgium.
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$a De Jonghe, Peter $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. Department of Neurology, Antwerp University Hospital, Edegem, Belgium.
700    1_
$a De Deyn, Peter P $u Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium.
700    1_
$a Sleegers, Kristel $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
700    1_
$a Cruts, Marc $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
700    1_
$a Van Broeckhoven, Christine $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
700    1_
$a Goeman, Johan $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Hospital Network Antwerp, Antwerp.
700    1_
$a Nuytten, Dirk $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Hospital Network Antwerp, Antwerp.
700    1_
$a Smets, Katrien $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Antwerp University Hospital, Edegem.
700    1_
$a Robberecht, Wim $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University Hospitals Leuven Gasthuisberg, Leuven.
700    1_
$a Damme, Philip Van $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University Hospitals Leuven Gasthuisberg, Leuven.
700    1_
$a Bleecker, Jan De $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University Hospital Ghent, Ghent.
700    1_
$a Santens, Patrick $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University Hospital Ghent, Ghent.
700    1_
$a Dermaut, Bart $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University Hospital Ghent, Ghent.
700    1_
$a Versijpt, Jan $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University Hospital Brussels, Brussels.
700    1_
$a Michotte, Alex $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University Hospital Brussels, Brussels.
700    1_
$a Ivanoiu, Adrian $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Saint-Luc University Hospital, Brussels.
700    1_
$a Deryck, Olivier $u Center for Molecular Neurology, VIB, Antwerp, Belgium. General Hospital Sint-Jan Brugge, Bruges.
700    1_
$a Bergmans, Bruno $u Center for Molecular Neurology, VIB, Antwerp, Belgium. General Hospital Sint-Jan Brugge, Bruges.
700    1_
$a Delbeck, Jean $u Center for Molecular Neurology, VIB, Antwerp, Belgium. General Hospital Sint-Maria, Halle.
700    1_
$a Bruyland, Marc $u Center for Molecular Neurology, VIB, Antwerp, Belgium. General Hospital Glorieux Ronse.
700    1_
$a Willems, Christiana $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Jessa Hospital, Hasselt.
700    1_
$a Salmon, Eric $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University of Liège and Memory Clinic, CHU Liège, Liège.
700    1_
$a Pastor, Pau $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University Hospital Mútua de Terrassa and Fundació Docència i Recerca Mútua Terrassa, University of Barcelona School of Medicine, Terrassa, Barcelona, Spain. CIBERNED Instituto de Salud Carlos III, Madrid, Spain.
700    1_
$a Ortega-Cubero, Sara $u Center for Molecular Neurology, VIB, Antwerp, Belgium. CIBERNED Instituto de Salud Carlos III, Madrid, Spain. Deparment of Neurology, Complejo Asistencial Universitario de Palencia, Palencia, Spain.
700    1_
$a Benussi, Luisa $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
700    1_
$a Ghidoni, Roberta $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
700    1_
$a Binetti, Giuliano $u Center for Molecular Neurology, VIB, Antwerp, Belgium. MAC Memory Center and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy.
700    1_
$a Hernández, Isabel $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain.
700    1_
$a Boada, Mercè $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain.
700    1_
$a Ruiz, Agustín $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain.
700    1_
$a Sorbi, Sandro $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
700    1_
$a Nacmias, Benedetta $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
700    1_
$a Bagnoli, Silvia $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
700    1_
$a Sorbi, Sandro $u Center for Molecular Neurology, VIB, Antwerp, Belgium. IRCCS Don Carlo Gnocchi Scandicci, Florence, Italy.
700    1_
$a Sanchez-Valle, Raquel $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Hospital Clínic, IDIBAPS, Barcelona, Spain.
700    1_
$a Llado, Albert $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Hospital Clínic, IDIBAPS, Barcelona, Spain.
700    1_
$a Santana, Isabel $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University of Coimbra, Coimbra, Portugal.
700    1_
$a Rosário Almeida, Maria $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University of Coimbra, Coimbra, Portugal.
700    1_
$a Frisoni, Giovanni B $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli, Brescia, Italy.
700    1_
$a Maetzler, Walter $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Hertie Institute for Clinical Brain Research, Tübingen, Germany.
700    1_
$a Matej, Radoslav $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Thomayer Hospital, Prague and Charles University, Prague, Czech Republic.
700    1_
$a Fraidakis, Matthew J $u Center for Molecular Neurology, VIB, Antwerp, Belgium. NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics Athens, Greece.
700    1_
$a Kovacs, Gabor G $u Center for Molecular Neurology, VIB, Antwerp, Belgium. Medical University of Vienna, Vienna, Austria.
700    1_
$a Fabrizi, Gian Maria $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University of Verona, Verona, Italy.
700    1_
$a Testi, Silvia $u Center for Molecular Neurology, VIB, Antwerp, Belgium. University of Verona, Verona, Italy.
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