Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study

• DOI: 10.1159/000525091
• Publication Date: 2022-05-16T21:00:32Z
• Authors: Cathrine Goberg O...; Øyvind Løvold Busk; Tori Navestad Aan...; Karl Bjørnar Alst...; Ingrid Kristine B...; Geir Julius Braathen; Kristin Lif Breivik; Natasha Demic; Heidi Øyen Flemmen; Erika Hallerstig; Ineke HogenEsch; Øystein Lunde Holla; Anne Berit Jøntvedt; Margitta T. Kampman; Grethe Kleveland; Helene Ballo Kvernmo; Unn Ljøstad; Angelina Maniaol; Åse Hagen Morsund; Ola Nakken; Camilla Novy; Tiina Rekand; Katrin Schlüter; Stephan Schüler; Kristian Tveten; Ole-Bjørn Tysnes; Trygve Holmøy; Helle Høyer
• Keywords: C9ORF72; Genetic epidemiology

<b><i>Background:</i></b> Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. In Europe, disease-causing genetic variants have been identified in 40–70% of familial ALS patients and approximately 5% sporadic patients. Norway, the contribution to has not yet studied. light potential development personalized medicine, knowledge causes population becoming increasingly important. The present study provides clinical data on Norwegian population-based cohort. <b><i>Methods:</i></b> Blood samples information from were obtained at all 17 neurological departments throughout Norway during 2-year period. Genetic analysis involved expansion <i>C9orf72</i> exome sequencing targeting 30 known ALS-linked genes. classified using genotype-phenotype correlations bioinformatics tools. <b><i>Results:</i></b> A total 279 included study. Of these, 11.5% had one or several family members affected by ALS, whereas 88.5% no history ALS. cause was 31 individuals (11.1%), among which 18 (58.1%) 13 (41.9%) sporadic. most common (6.8%), 8 11 Pathogenic likely pathogenic <i>SOD1</i> <i>TBK1</i> 10 2 cases. expansions dominated Northern Central regions, South-Eastern region. <b><i>Conclusion:</i></b> study, we gene both Restricting only cases would miss more than 40 percent those with variant, indicating need for as well.