Amyotrophic lateral sclerosis – genetic forms with low epidemiological frequency and candidate genes
Keywords:
ALS, genes, phenotypeAbstract
Amyotrophic lateral sclerosis (ALS) is a rare neurological disease characterized by progressive degeneration of the upper motor neuron and the lower motor neuron. An expression of the genetic and clinical diversity of the disease is the presence of 31 genes and 2 gene loci, mutations in which lead to the development of 24 typical and 11 ALS-plus clinical-genetic forms with low epidemiological frequency. Characteristic of many of them is their focus on a certain geographical area, as the reporting of remote cases is associated with the migration of the population during different historical epochs. Currently, there are scientific data on 12 high-confidence candidate genes for which in-depth studies are being conducted.
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Copyright (c) 2021 Teodor Angelov, T. Chamova, I. Tournev
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