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...
| Main Authors: | , , , |
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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 |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/240 |
| _version_ | 1797702112715472896 |
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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. |
| first_indexed | 2024-03-12T04:46:27Z |
| format | Article |
| id | doaj.art-e2c01c4d4ac04cd79fc378c2a3bc82d7 |
| institution | Directory Open Access Journal |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| last_indexed | 2024-03-12T04:46:27Z |
| publishDate | 2018-01-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj.art-e2c01c4d4ac04cd79fc378c2a3bc82d72023-09-03T09:28:55ZrusABV-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. Illarioshkin3ФГБНУ «Научный центр неврологии»ФГБНУ «Научный центр неврологии»ФГБНУ «Научный центр неврологии»ФГБНУ «Научный центр неврологии»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.https://nmb.abvpress.ru/jour/article/view/240боковой амиотрофический склерозднк-диагностикаген sod1доклиническое медико-генетическое консультированиегенетический риск |
| spellingShingle | Yu. A. Shpilyukova A. A. Rosliakova M. N. Zakharova S. N. Illarioshkin Presymptomatic genetic counseling in amyotrophic lateral sclerosis Нервно-мышечные болезни боковой амиотрофический склероз днк-диагностика ген sod1 доклиническое медико-генетическое консультирование генетический риск |
| 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 | боковой амиотрофический склероз днк-диагностика ген sod1 доклиническое медико-генетическое консультирование генетический риск |
| url | https://nmb.abvpress.ru/jour/article/view/240 |
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