Hot-spot KIF5A mutations cause familial ALS

Author:

Brenner David1ORCID,Yilmaz Rüstem1,Müller Kathrin1,Grehl Torsten2,Petri Susanne3,Meyer Thomas4,Grosskreutz Julian5,Weydt Patrick16,Ruf Wolfgang1,Neuwirth Christoph7,Weber Markus7,Pinto Susana89,Claeys Kristl G10111213,Schrank Berthold14,Jordan Berit15,Knehr Antje1,Günther Kornelia1,Hübers Annemarie1,Zeller Daniel16,Kubisch Christian1718,Jablonka Sibylle19,Sendtner Michael19ORCID,Klopstock Thomas202122,de Carvalho Mamede823,Sperfeld Anne15,Borck Guntram17,Volk Alexander E1718,Dorst Johannes1,Weis Joachim10,Otto Markus1,Schuster Joachim1,Del Tredici Kelly1,Braak Heiko1,Danzer Karin M1,Freischmidt Axel1,Meitinger Thomas2425,Strom Tim M2425,Ludolph Albert C1,Andersen Peter M19,Weishaupt Jochen H1,Weyen Ute,Hermann Andreas,Hagenacker Tim,Koch Jan Christoph,Lingor Paul,Göricke Bettina,Zierz Stephan,Baum Petra,Wolf Joachim,Winkler Andrea,Young Peter,Bogdahn Ulrich,Prudlo Johannes,Kassubek Jan,

Affiliation:

1. Neurology Department, Ulm University, Ulm, Germany

2. Department of Neurology, Alfried Krupp Hospital, Essen, Germany

3. Department of Neurology, Hannover Medical School, Hannover, Germany

4. Charité University Hospital, Humboldt-University, Berlin, Germany

5. Department of Neurology, Jena University Hospital, Jena, Germany

6. Department for Neurodegenerative Disorders and Gerontopsychiatry, Bonn University, Bonn, Germany

7. Kantonsspital St. Gallen, ALS Outpatient Clinic, St. Gallen, Switzerland

8. Department of Neurosciences and Mental Health, Hospital de Santa Maria-CHLN, Lisbon, Portugal

9. Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden

10. Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany

11. Department of Neurology, RWTH Aachen University Hospital, Aachen, Germany

12. Department of Neurology, University Hospitals Leuven, Leuven, Belgium

13. Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, Experimental Neurology, KU Leuven - University of Leuven, Leuven, Belgium

14. Department of Neurology, DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany

15. Department of Neurology Martin-Luther-University Halle-Wittenberg, Halle/Saale, Germany

16. Department of Neurology, University of Würzburg, Würzburg, Germany

17. Institute of Human Genetics, Ulm University, Ulm, Germany

18. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

19. Institute of Clinical Neurobiology, University Hospital of Würzburg, Würzburg, Germany

20. Department of Neurology with Friedrich-Baur-Institute, University of Munich, Munich, Germany

21. German Center for Neurodegenerative Diseases (DZNE), Munich, Germany

22. Munich Cluster for Systems Neurology (SyNergy), Munich, Germany

23. Instituto de Medicina Molecular and Institute of Physiology, Faculty of Medicine, University of Lisbon, Portugal

24. SyNergy, Munich Cluster for Systems Neurology, Ludwig Maximilians Universität München, Germany

25. Institute of Human Genetics, Technische Universität München, München, Germany

Funder

German society for patients with muscular diseases

German Federal Ministry of Education and Research

German Network for ALS Research MND-NET

German FTLDc network

DFG-funded Swabian ALS Registry

ALS association

Baden-Württemberg

Boehringer Ingelheim Ulm University BioCenter

Thierry Latran Foundation

Swedish Brain Foundation

Swedish Science Council

Knut and Alice Wallenberg Foundation

Bertil Hållsten Foundation

Ulla-Carin Lindquist Foundation

Neuroförbundet Association

Torsten and Ragnar Söderberg Foundation

Stratneuro Initiative

Västerbotten County Council

Deutsche Forschungsgemeinschaft

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Reference42 articles.

1. EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. An evidence-based review with good practice points;Andersen;Eur J Neurol,2005

2. EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS)—revised report of an EFNS task force;Andersen;Eur J Neurol,2012

3. Amyotrophic lateral sclerosis–a model of corticofugal axonal spread;Braak;Nat Rev Neurol,2013

4. Pathological TDP-43 changes in Betz cells differ from those in bulbar and spinal α-motoneurons in sporadic amyotrophic lateral sclerosis;Braak;Acta Neuropathol,2017

5. NEK1 mutations in familial amyotrophic lateral sclerosis;Brenner;Brain,2016

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