Repeat expansions in

Norway amyotrophic lateral sclerosis genetic risk factor population-based study

Journal

Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125

Informations de publication

Date de publication:
2024
Historique:
received: 21 09 2023
revised: 23 01 2024
accepted: 12 03 2024
medline: 8 4 2024
pubmed: 8 4 2024
entrez: 8 4 2024
Statut: epublish

Résumé

Genetic repeat expansions cause neuronal degeneration in amyotrophic lateral sclerosis as well as other neurodegenerative disorders such as spinocerebellar ataxia, Huntington's disease and Kennedy's disease. Repeat expansions in the same gene can cause multiple clinical phenotypes. We aimed to characterize repeat expansions in a Norwegian amyotrophic lateral sclerosis cohort. Norwegian amyotrophic lateral sclerosis patients (

Identifiants

DOI: 10.1093/braincomms/fcae087 PMID: 38585669 PMC: PMC10998343
pubmed: 38585669
doi: 10.1093/braincomms/fcae087
pii: fcae087
pmc: PMC10998343
doi:

Types de publication

Journal Article

Langues

eng

Pagination

fcae087

Informations de copyright

© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.

Déclaration de conflit d'intérêts

The authors report no competing interests.

Auteurs

Camilla Novy (C)

Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, 0316 Oslo, Norway.
ORCID: 0009-0008-0089-3669

Øyvind L Busk (ØL)

Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.

Ole-Bjørn Tysnes (OB)

Neuro-SysMed, Department of Neurology, Haukeland University Hospital, 5009 Bergen, Norway.

Sigve S Landa (SS)

Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.

Tori N Aanjesen (TN)

Department of Neurology, Akershus University Hospital, 1478 Lørenskog, Norway.

Karl B Alstadhaug (KB)

Department of Neurology, Nordland Hospital Trust, 8005 Bodø, Norway.

Tale L Bjerknes (TL)

Neuro-SysMed, Department of Neurology, Haukeland University Hospital, 5009 Bergen, Norway.
Institute of Clinical Medicine, University of Bergen, 5007 Bergen, Norway.

Ingrid K Bjørnå (IK)

Department of Neurology, Vestre Viken Hospital Trust, 3004 Drammen, Norway.

Geir Bråthen (G)

Department of Neurology and Clinical Neurophysiology, St. Olavs Hospital, Trondheim University Hospital, 7030 Trondheim, Norway.
Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, 7034 Trondheim, Norway.

Elin Dahl (E)

Department of Neurology, Telemark Hospital Trust, 3710 Skien, Norway.

Natasha Demic (N)

Department of Neurology, Vestfold Hospital Trust, 3103 Tønsberg, Norway.

Maria Fahlström (M)

Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.

Heidi Ø Flemmen (HØ)

Department of Neurology, Telemark Hospital Trust, 3710 Skien, Norway.

Erika Hallerstig (E)

Department of Neurology, Østfold Hospital Trust, 1714 Grålum, Norway.

Ineke HogenEsch (I)

Department of Neurology, Fonna Hospital Trust, 5528 Haugesund, Norway.

Margitta T Kampman (MT)

Department of Neurology, University Hospital of North Norway, 9019 Tromsø, Norway.

Grethe Kleveland (G)

Department of Neurology, Innlandet Hospital Trust, 2609 Lillehammer, Norway.

Helene B Kvernmo (HB)

Department of Neurology and Clinical Neurophysiology, St. Olavs Hospital, Trondheim University Hospital, 7030 Trondheim, Norway.
Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, 7034 Trondheim, Norway.

Unn Ljøstad (U)

Institute of Clinical Medicine, University of Bergen, 5007 Bergen, Norway.
Department of Neurology, Sørlandet Hospital Trust, 4615 Kristiansand, Norway.

Angelina Maniaol (A)

Department of Neurology, Oslo University Hospital, 0450 Oslo, Norway.

Aase Hagen Morsund (AH)

Department of Neurology, Molde Hospital, 6412 Molde, Norway.

Ola Nakken (O)

Department of Neurology, Akershus University Hospital, 1478 Lørenskog, Norway.

Cathrine G Olsen (CG)

Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, 0316 Oslo, Norway.

Katrin Schlüter (K)

Department of Neurology, Stavanger University Hospital, 4019 Stavanger, Norway.

May-Sissel Utvik (MS)

Department of Neurology, Namsos Hospital Trust, 7803 Namsos, Norway.

Ryaz Yaseen (R)

Department of Neurology, Oslo University Hospital, 0450 Oslo, Norway.

Øystein L Holla (ØL)

Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.

Trygve Holmøy (T)

Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, 0316 Oslo, Norway.
Department of Neurology, Akershus University Hospital, 1478 Lørenskog, Norway.

Helle Høyer (H)

Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.

Classifications MeSH