Camilla Novy, Øyvind L Busk, Ole-Bjørn Tysnes, Sigve S Landa, Tori N Aanjesen, Karl B Alstadhaug, Tale L Bjerknes, Ingrid K Bjørnå, Geir Bråthen, Elin Dahl, Natasha Demic, Maria Fahlström, Heidi Ø Flemmen, Erika Hallerstig, Ineke HogenEsch, Margitta T Kampman, Grethe Kleveland, Helene B Kvernmo, Unn Ljøstad, Angelina Maniaol, Aase Hagen Morsund, Ola Nakken, Cathrine G Olsen, Katrin Schlüter, May-Sissel Utvik, Ryaz Yaseen, Øystein L Holla, Trygve Holmøy, Helle Høyer
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 ( n = 414) and neurologically healthy controls adjusted for age and gender ( n = 713) were investigated for repeat expansions in AR , ATXN1 , ATXN2 and HTT using short read exome sequencing and the ExpansionHunter software...
2024: Brain communications