Genetics of hereditary forms of dystonia
Dystonia is one of the most common movement disorders withgreat medical, social and economic importance. Genetics playssignificant role in the development of different, and mainly primary,forms of dystonia. At present the range of hereditary dystonicsyndromes comprises more than twenty separate clin...
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| Format: | Article |
| Language: | English |
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Research Center of Neurology
2017-02-01
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| Series: | Анналы клинической и экспериментальной неврологии |
| Subjects: | |
| Online Access: | https://annaly-nevrologii.com/journal/pathID/article/viewFile/234/74 |
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| author | M. Yu. Krasnov S. L. Timerbaeva S. N. Illarioshkin |
| author_facet | M. Yu. Krasnov S. L. Timerbaeva S. N. Illarioshkin |
| author_sort | M. Yu. Krasnov |
| collection | DOAJ |
| description | Dystonia is one of the most common movement disorders withgreat medical, social and economic importance. Genetics playssignificant role in the development of different, and mainly primary,forms of dystonia. At present the range of hereditary dystonicsyndromes comprises more than twenty separate clinicalgeneticvariants, which characterizes dystonia as a highly heterogeneousnosologic group calling for differentiated approachesto diagnosis and treatment. Detailed analysis of the literatureon hereditary forms of dystonia, including clinical picture,molecular genetic basis, phenotypegenotype correlations, andprinciples of DNA diagnostics and medical genetic counselingof affected families, is presented. |
| first_indexed | 2024-12-12T13:16:14Z |
| format | Article |
| id | doaj.art-ec6af381f9d64026951ef91e97d23f6b |
| institution | Directory Open Access Journal |
| issn | 2075-5473 2409-2533 |
| language | English |
| last_indexed | 2024-12-12T13:16:14Z |
| publishDate | 2017-02-01 |
| publisher | Research Center of Neurology |
| record_format | Article |
| series | Анналы клинической и экспериментальной неврологии |
| spelling | doaj.art-ec6af381f9d64026951ef91e97d23f6b2022-12-22T00:23:25ZengResearch Center of NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-25332017-02-0172556210.17816/psaic234136Genetics of hereditary forms of dystoniaM. Yu. Krasnov0S. L. Timerbaeva1S. N. Illarioshkin2Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)Dystonia is one of the most common movement disorders withgreat medical, social and economic importance. Genetics playssignificant role in the development of different, and mainly primary,forms of dystonia. At present the range of hereditary dystonicsyndromes comprises more than twenty separate clinicalgeneticvariants, which characterizes dystonia as a highly heterogeneousnosologic group calling for differentiated approachesto diagnosis and treatment. Detailed analysis of the literatureon hereditary forms of dystonia, including clinical picture,molecular genetic basis, phenotypegenotype correlations, andprinciples of DNA diagnostics and medical genetic counselingof affected families, is presented.https://annaly-nevrologii.com/journal/pathID/article/viewFile/234/74dystoniahereditary formsgeneticsphenotypesdiagnosis |
| spellingShingle | M. Yu. Krasnov S. L. Timerbaeva S. N. Illarioshkin Genetics of hereditary forms of dystonia Анналы клинической и экспериментальной неврологии dystonia hereditary forms genetics phenotypes diagnosis |
| title | Genetics of hereditary forms of dystonia |
| title_full | Genetics of hereditary forms of dystonia |
| title_fullStr | Genetics of hereditary forms of dystonia |
| title_full_unstemmed | Genetics of hereditary forms of dystonia |
| title_short | Genetics of hereditary forms of dystonia |
| title_sort | genetics of hereditary forms of dystonia |
| topic | dystonia hereditary forms genetics phenotypes diagnosis |
| url | https://annaly-nevrologii.com/journal/pathID/article/viewFile/234/74 |
| work_keys_str_mv | AT myukrasnov geneticsofhereditaryformsofdystonia AT sltimerbaeva geneticsofhereditaryformsofdystonia AT snillarioshkin geneticsofhereditaryformsofdystonia |