SOD1 gene study in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease accompanied by the death of central and peripheral motor neurons, characterized by a progressive course. Most often, the development of the disease is associated with mutations in the SOD1 (24.0% in familial ALS and 4.6% in sporadic cases) and C9orf72 genes (expansion of G4C2 repeats found in 1.8% of sporadic ALS cases). According to various researchers, in 5-20% of cases, ALS is combined with frontotemporal dementia (FTD). In turn, 10% of patients with FTD show motor disorders characteristic of ALS. The presence of a mutation in the SOD1 gene in patients with suspected ALS allows classifying it in the category of "reliable laboratory-confirmed ALS".

Within 10 days. The specified time does not include the day of biomaterial collection