A5037500759- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
University of Oslo
2022-2024
Telemark Hospital
2022-2024
<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...
Abstract Genetic repeat expansions cause neuronal degeneration in amyotrophic lateral sclerosis as well other neurodegenerative disorders such spinocerebellar ataxia, Huntington’s disease and Kennedy’s disease. Repeat the same gene can multiple clinical phenotypes. We aimed to characterize a Norwegian cohort. patients (n = 414) neurologically healthy controls adjusted for age gender 713) were investigated AR, ATXN1, ATXN2 HTT using short read exome sequencing ExpansionHunter software. Five...
Objective: Amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease characterized by the loss of motor neurons, has limited treatment options available. Treatments targeting specific ALS genes, including UNC13A, have attracted considerable attention. The UNC13A rs12608932 variant been associated with an increased risk ALS, shorter survival, and more frequent bulbar onset. Methods: In this study, we investigated allele frequency among 500 Norwegian patients, divided into...