Biomarkers in asymptomatic carriers of ALS-related mutations

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterised by the progressive loss of motor neurons causing death after about 3 years. In 5-10% of the cases there is a known genetic cause, such as mutations in the C9orf72 or SOD1 genes. Mutation carriers will at some point develop the disease, however currently markers for predicting disease onset are lacking. Novel therapies for specific carrier-subgroupes are becoming available. The purpose of this doctoral thesis is to discover biomarkers that predict the onset of the disease process, that carry prognostic value and/or facilitate the diagnosis.