Presymptomatic genetic counseling in amyotrophic lateral sclerosis
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...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2018-01-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/240 |
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| author | Yu. A. Shpilyukova A. A. Rosliakova M. N. Zakharova S. N. Illarioshkin |
| author_facet | Yu. A. Shpilyukova A. A. Rosliakova M. N. Zakharova S. N. Illarioshkin |
| author_sort | Yu. A. Shpilyukova |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e2c01c4d4ac04cd79fc378c2a3bc82d7 |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2018-01-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-e2c01c4d4ac04cd79fc378c2a3bc82d72025-08-20T03:38:15ZrusABV-pressНервно-мышечные болезни2222-87212413-04432018-01-0174505510.17650/2222-8721-2017-7-4-50-55190Presymptomatic genetic counseling in amyotrophic lateral sclerosisYu. A. Shpilyukova0A. A. Rosliakova1M. N. Zakharova2S. N. Illarioshkin3Research Center of NeurologyResearch Center of NeurologyResearch Center of NeurologyResearch Center of NeurologyAmyotrophic 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.https://nmb.abvpress.ru/jour/article/view/240amyotrophic lateral sclerosisdna testingsod1 genepresymptomatic genetic counselinggenetic risk |
| spellingShingle | Yu. A. Shpilyukova A. A. Rosliakova M. N. Zakharova S. N. Illarioshkin Presymptomatic genetic counseling in amyotrophic lateral sclerosis Нервно-мышечные болезни amyotrophic lateral sclerosis dna testing sod1 gene presymptomatic genetic counseling genetic risk |
| title | Presymptomatic genetic counseling in amyotrophic lateral sclerosis |
| title_full | Presymptomatic genetic counseling in amyotrophic lateral sclerosis |
| title_fullStr | Presymptomatic genetic counseling in amyotrophic lateral sclerosis |
| title_full_unstemmed | Presymptomatic genetic counseling in amyotrophic lateral sclerosis |
| title_short | Presymptomatic genetic counseling in amyotrophic lateral sclerosis |
| title_sort | presymptomatic genetic counseling in amyotrophic lateral sclerosis |
| topic | amyotrophic lateral sclerosis dna testing sod1 gene presymptomatic genetic counseling genetic risk |
| url | https://nmb.abvpress.ru/jour/article/view/240 |
| work_keys_str_mv | AT yuashpilyukova presymptomaticgeneticcounselinginamyotrophiclateralsclerosis AT aarosliakova presymptomaticgeneticcounselinginamyotrophiclateralsclerosis AT mnzakharova presymptomaticgeneticcounselinginamyotrophiclateralsclerosis AT snillarioshkin presymptomaticgeneticcounselinginamyotrophiclateralsclerosis |