Presymptomatic genetic counseling in amyotrophic lateral sclerosis
https://doi.org/10.17650/2222-8721-2017-7-4-50-55
Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive loss of central and peripheric motor neurons, with genetic factors playing significant role in its development. In this article, we discuss in detail the difficulties in the analysis of ALS related to incomplete penetrance of mutations, extreme genetic heterogeneity of this disorder, the lack of clear genotype-phenotype correlations, etc. Presented is our own instructive observation in which a clinically unaffected relative of a patient with the SOD1-associated form of ALS requested presymptomatic ALS genetic testing and medical-genetic counseling. Key aspects of recommendations about presymptomatic genetic counseling in persons from the risk group originating from families with ALS have been presented.
About the Authors
Yu. A. Shpilyukova
Research Center of Neurology
Russian Federation
80 Volokolamskoe Shosse, Моscow 125367, Russia
Russian Federation
80 Volokolamskoe Shosse, Моscow 125367, Russia
A. A. Rosliakova
Research Center of Neurology
Russian Federation
80 Volokolamskoe Shosse, Моscow 125367, Russia
Russian Federation
80 Volokolamskoe Shosse, Моscow 125367, Russia
M. N. Zakharova
Research Center of Neurology
Russian Federation
80 Volokolamskoe Shosse, Моscow 125367, Russia
Russian Federation
80 Volokolamskoe Shosse, Моscow 125367, Russia
S. N. Illarioshkin
Research Center of Neurology
Russian Federation
80 Volokolamskoe Shosse, Моscow 125367, Russia
Russian Federation
80 Volokolamskoe Shosse, Моscow 125367, Russia
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Review
For citations:
Shpilyukova Yu.A., Rosliakova A.A., Zakharova M.N., Illarioshkin S.N. Presymptomatic genetic counseling in amyotrophic lateral sclerosis. Neuromuscular Diseases. 2017;7(4):50-55. (In Russ.) https://doi.org/10.17650/2222-8721-2017-7-4-50-55
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