Genetic forms of amyotrophic lateral sclerosis – classification and genotypegenetic forms with high epidemiological frequency
Keywords:
ALS, genes, phenotypeAbstract
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with fatal outcome. To date, the association of mutations in 35 genes and 2 gene loci with the development of the disease has been proven. According to the observed clinical phenotype, the causative genes can be divided into two groups - leading to the development of pure ALS forms and ALS-plus syndromes. Mutations in four genes are indicated as major in the etiology of the genetic forms of ALS – C9orf72, SOD1, TARDBP and FUS, and they have got predominantly autosomal dominant type of inheritance. Although a genetic defect has been demonstrated in only about 60% of cases of familial ALS and 5-10% of those of sporadic ALS, intensive molecular genetic studies in patients with ALS have led to many new discoveries, as evidenced by the fact that 22 of the genes have been described in the scientific literature since 2010.
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