ACADEMIC AND RESEARCH PEER-REVIEWED MEDICAL JOURNALISSN 1727-2378 (Print)         ISSN 2713-2994 (Online)
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The Genetics of Essential Tremor: Review of the Literature

DOI:10.31550/1727-2378-2019-161-6-18-22
Bibliography link: Popova T.E., Govorova T.G., Tappakhov A.A., Antipina U.D., Samortseva V.N., Schnaider N.A. The Genetics of Essential Tremor: Review of the Literature. Doctor.Ru. 2019; 6(161): 18–22. DOI: 10.31550/1727-2378-2019-161-6-18-22
10 June 07:43

Objective of the Review: To summarize research evidence on the role of genetic factors in the development of essential tremor (ET).

Key Points: Essential tremor is one of the most common progressive neurological disorders. Genetic factors are thought to contribute substantially to its development and are the subject of ongoing, intense research. So far, no role of the ETM1, ETM2, and ETM3 loci in the development of monogenic ET has been confirmed. A new mutation in the FUS gene may be viewed as the causal factor of a rare familial type of this disease. Investigation of polymorphism in the LINGO1 and SLC1A2 genes is another promising area.

Conclusion: Difficulties in identifying candidate genes for association with ET may be explained by the genetic heterogeneity of this disease, small study sizes, the great number of phenocopies, and challenges related to differential diagnosis from other types of tremor. The possibilities of non-Mendelian genetic inheritance patterns and non-genetic ET causes, related to the effects of toxins are also discussed.

T.E. Popova — M.K. Ammosov Northeastern Federal University; 58 Belinsky St., Yakutsk, Russian Federation 677000. eLIBRARY.RU SPIN: 8755-9035. ORCID: 0000-0003-1062-1540. E-mail: tata2504@yandex.ru

T.G. Govorova — M.K. Ammosov Northeastern Federal University; 58 Belinsky St., Yakutsk, Russian Federation 677000. ORCID: 0000-0003-0610-3660. E-mail: govorovatatyana@mail.ru

A.A. Tappakhov — M.K. Ammosov Northeastern Federal University; 58 Belinsky St., Yakutsk, Russian Federation 677000. eLIBRARY.RU SPIN: 2062-1540. ORCID: 0000-0002-4159-500Х. E-mail: dralex89@mail.ru

U.D. Antipina — M.K. Ammosov Northeastern Federal University; 58 Belinsky St., Yakutsk, Russian Federation 677000. E-mail: ud.antipina@s-vfu.ru

V.N. Samortseva — M.K. Ammosov Northeastern Federal University; 58 Belinsky St., Yakutsk, Russian Federation 677000. E-mail: Vera-kolay@mail.ru

N.A. Schnaider — V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, Russian Ministry of Health; 3 Bekhterev St., St. Petersburg, Russian Federation 192019. eLIBRARY.RU SPIN: 6517-0279. ORCID: 0000-0002-2840-837Х. E-mail: naschnaider@yandex.ru


The reported study was funded by the Russian Foundation for Basic Research (RFBR), research project No.19-315-90007.

The authors declare that they do not have any conflict of interests.

Доктор.ру
10 June 07:43
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