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Epidemiology of Huntington’s disease in the Khabarovsk Territory
- Authors: Proskokova T.N.1, Skretnev A.S.1
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Affiliations:
- Far-Eastern State Medical University, Ministry of Health of the Russian Federation
- Issue: Vol 10, No 2 (2016)
- Pages: 28-32
- Section: Original articles
- URL: https://annaly-nevrologii.com/journal/pathID/article/view/62
- DOI: https://doi.org/10.17816/psaic62
- ID: 62
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Abstract
We conducted the first population-based study of Huntington’s disease (HD) in the Khabarovsk Territory (Khabarovsk, Komsomolsk-on-Amur, and 17 districts of the region). A total of 96 patients were identified, including 77 cases of familial disease (35 families), 15 cases – sporadic, and 4 – with unknown history. HD prevalence in the Khabarovsk Territory was 7.1:100 000 population. The article presents the clinical cases with rare forms of HD, confirmed by DNA diagnosis, namely Westphal juvenile form and primary akinetic-rigid adult-onset form. The role ofthorough collection of family history and molecular genetic testing to establish the correct diagnosis was emphasized.
About the authors
Tatyana N. Proskokova
Far-Eastern State Medical University, Ministry of Health of the Russian Federation
Author for correspondence.
Email: proskokova2011@yandex.ru
Russian Federation, Khabarovsk
A. S. Skretnev
Far-Eastern State Medical University, Ministry of Health of the Russian Federation
Email: proskokova2011@yandex.ru
Russian Federation, Khabarovsk
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СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).