Due to copyright issues, an electronic copy of the thesis must be ordered from the faculty. For the faculty to have time to process the order, the order must be received by the faculty at the latest 2 days before the public defence. Orders received later than 2 days before the defence will not be processed. After the public defence, please address any inquiries regarding the thesis to the candidate.
Trial Lecture – time and place
See Trial Lecture.
Adjudication committee
- First opponent: Professor Caroline Ingre, Karolinska Institutet, Sweden
- Second opponent: Professor Wenche Sjursen, Norwegian University of Science and Technology,
- Third member and chair of the evaluation committee: Professor John Anker Zwart, University of Oslo
Chair of the Defence
Professor Bjørnar Hassel, University of Oslo
Principal Supervisor
Researcher Helle Høyer, University of Oslo and Sykehuset Telemark HF
Summary
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder commonly divided into familial ALS (fALS), with more than one affected relative, and sporadic ALS (sALS). The most common genetic causes of ALS is variants in C9orf72, SOD1, TARDBP, and FUS. Their frequencies differ greatly across geographical regions.
This study aimed to identify the genetic epidemiology of ALS in Norway. All 17 neurology departments included ALS cases. At inclusion, blood samples and questionnaires concerning the familial burden of ALS and clinical features were collected. The genetic analysis included the C9orf72 expansion analysis and whole-exome sequencing.
A pathogenic genetic cause was identified in 11% of the ALS cases, with variants in C9orf72 and SOD1 being most common. Regional differences were identified, with C9orf72 dominating in the Northern and Central Health Region, while SOD1 dominated in the South-Eastern Health Region.
More than 40% of the pathogenic variants were identified in sALS cases. Restricting genetic testing to fALS and atypical ALS cases would miss nearly half of those with a pathogenic variant, indicating the need for genetic testing in sporadic cases as well.
Additional information
Contact the research support staff.