FREQUENCY OF MUTATIONS IN THE SOD1 GENE IN RUSSIAN PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS
https://doi.org/10.1234/XXXX-XXXX-2013-4-32-37
Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characteri zed by progressive loss of cortical and spinal motor neurons, the development of paralyses, and death from respiratory and bulbar failure. About 10% of ALS cases are caused by mutations in several genes, among which most important is Cu/Zn superoxide dismutase (SOD1) gene. Two hundred and six ALS patients (98 females and 108 males) were examined, including 9 patients from 8 unrelated families with a familial form of ALS. On molecular genetic analysis, SOD 1 coding mutations were detected in 50% of familial cases and 3% of sporadic cases of the disease. In the paper, a spectrum of mutations revealed in Russian patients with ALS and most representative cases of a familial form of ALS demon-strati ng the need for medi cal genetic counseli ng in affected fami l ies are presented.
About the Authors
E. V. Lysogorskaia
Research Center of Neurology, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
N. Iu. Abramycheva
Research Center of Neurology, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
M. N. Zakharova
Research Center of Neurology, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
S. N. Illarioshkin
Research Center of Neurology, Russian Academy of Medical Sciences
Russian Federation
Russian Federation
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For citations:
Lysogorskaia E.V., Abramycheva N.I., Zakharova M.N., Illarioshkin S.N. FREQUENCY OF MUTATIONS IN THE SOD1 GENE IN RUSSIAN PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS. Medical Genetics. 2013;12(4):32-37. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2013-4-32-37
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