Email this article Presymptomatic genetic counseling in amyotrophic lateral sclerosis
- Authors: Shpilyukova Y.A.1, Rosliakova A.A.1, Zakharova M.N.1, Illarioshkin S.N.1
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Affiliations:
- Research Center of Neurology
- Issue: Vol 7, No 4 (2017)
- Pages: 50-55
- Section: CLINICAL DISCUSSION
- Published: 11.01.2018
- URL: https://nmb.abvpress.ru/jour/article/view/240
- DOI: https://doi.org/10.17650/2222-8721-2017-7-4-50-55
- ID: 240
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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
Author for correspondence.
Email: jshpilyukova@gmail.com
80 Volokolamskoe Shosse, Моscow 125367, Russia Russian Federation
A. A. Rosliakova
Research Center of Neurology
Email: fake@neicon.ru
80 Volokolamskoe Shosse, Моscow 125367, Russia Russian Federation
M. N. Zakharova
Research Center of Neurology
Email: fake@neicon.ru
80 Volokolamskoe Shosse, Моscow 125367, Russia Russian Federation
S. N. Illarioshkin
Research Center of Neurology
Email: fake@neicon.ru
80 Volokolamskoe Shosse, Моscow 125367, Russia Russian Federation
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