Genetic markers of amyotrophic lateral sclerosis in the Russian population


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Amyotrophic lateral sclerosis (ALS) is a steadily progressive and fatal neurodegenerative disease, which is accompanied by damage to the central and peripheral motor neurons, motor deficits, speech and swallowing disorders, alimentary and respiratory failure. The article presents a brief overview of the currently available information on the genetics of amyotrophic lateral sclerosis (ALS), as well as describes clinical examples of patients with familial ALS from Russia with mutations in the superoxide dismutase-1 (SOD1), angiogenin (ANG), TDP-43 (TARDBP), VAPB, C9orf72 genes. Further research to study mutations in ALS causative genes in Russia is required.

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作者简介

Gleb Levitsky

Gleb Levitsky Clinic; N.I. Levitskaya Russian Charity ALS Foundation

Email: alsrus@gmail.com
Moscow, Russia

E. Zakharova

Medical Genetic Center of the Russian Academy of Sciences

Moscow, Russia

N. Milovanova

Medical Genetic Center of the Russian Academy of Sciences

Moscow, Russia

A. Polyakov

Center for Molecular Genetics

Moscow, Russia

V. Zabnenkova

Center for Molecular Genetics

Moscow, Russia

M. Struk

Polyclinic № 1 of the Administrative department of the President of the Russian federation

Moscow, Russia

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