Familial Amyotrophic Lateral Sclerosis (Pathogenic Mutations in the SOD1 Gene): Own Clinical Observations
Mutations in the superoxide dismutase 1 (SOD1) gene are associated with amyotrophic lateral sclerosis, a neurodegenerative disease predominantly affecting upper and lower motor neurons, characterized by steady progression and development of muscle atrophy, spasticity and pyramidal signs. To date, more than 180 different mutations of the SOD1 gene have been proposed, including point mutations, deletions, and insertions in five exons of the SOD1 gene. Most mutations are inherited in an autosomal dominant manner. Familial ALS is detected in every 10 patients, that is, in 10% of cases. A mutation in the SOD1 gene is associated with an earlier (up to 40 years) onset of ALS, as well as with its more rapid and aggressive progression, leading to the development most often in observable patients, most often from respiratory failure. Medical genetic study of ALS is important for studying the complex pathogenetic mechanisms associated with motor neuron degeneration. In this study we present our own clinical descriptions of genetically confirmed cases of amyotrophic lateral sclerosis with a heterozygous mutation in the SOD1 gene to demonstrate the features of the clinical picture and hereditary history of our patients.