Epidemiology of Huntington’s disease in the Khabarovsk Territory
- 作者: Proskokova T.1, Skretnev A.1
-
隶属关系:
- Far-Eastern State Medical University, Ministry of Health of the Russian Federation
- 期: 卷 10, 编号 2 (2016)
- 页面: 28-32
- 栏目: Original articles
- URL: https://journals.rcsi.science/2075-5473/article/view/124673
- DOI: https://doi.org/10.17816/psaic62
- ID: 124673
如何引用文章
全文:
详细
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.
作者简介
Tatyana Proskokova
Far-Eastern State Medical University, Ministry of Health of the Russian Federation
编辑信件的主要联系方式.
Email: proskokova2011@yandex.ru
俄罗斯联邦, Khabarovsk
A. Skretnev
Far-Eastern State Medical University, Ministry of Health of the Russian Federation
Email: proskokova2011@yandex.ru
俄罗斯联邦, Khabarovsk
参考
- Иллариошкин С.Н. ДНК-диагностика и медико-генетическое консультирование. М.: МИА, 2004.
- Иллариошкин С.Н. Ранние (додементные) формы когнитивных расстройств. Consilium Medicum. 2007; 2: 107–111.
- Иллариошкин С.Н., Иванова-Смоленская И.А., Маркова Е.Д. Новый механизм мутации у человека: экспансия тринуклеотидных повторов. Генетика. 1995; 11: 1478–1489.
- Платонов Ф.А., Иллариошкин С.Н., Кононова С.К. и др. Спиноцеребеллярная атаксия первого типа в Якутии: распространенность и клинико-генетические сопоставления. Мед. генетика. 2004; 5: 242–248.
- Almqvist E., Spence N., Nichol K. et al. Ancestral differences in the distribution of the 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington’s disease. Hum. Mol. Genet. 1994; 4:207–214.
- Davis M.B., Bateman D., Quinn N.P. et al. Mutation analysis in patients with possible but apparently sporadic Huntington’s disease. Lancet. 1994; 344: 714–717.
- Donaldson I., Marsden C.D., Schneider S.A., Bhatia K.P. Marsden’s book of movement disorders. Oxford, 2012: 729–816.
- Duyao M., Ambrose C., Myers R. Trinucleitide repeat length instability and age of onset in Huntington’s disease. Nat. Genet. 1993; 4: 387-392.
- Farrer L.A., Connealy M. Predictability of phenotype in Huntington’s disease. Arch. Neurol. 1987; 44: 109–113.
- Gusella J.F., Macdonald M.E., Ambrose C.M. et al. Molecular genetics of Huntington’s disease. Arch. Neurol. 1993; 50: 1157–1163.
- Hayden M.R. Huntington’s chorea. Berlin: Springer, 1981.
- Illarioshkin S.N., Igarashi S., Onodera O. et al. Trinucleotide repeat length and rate of progression of Huntington’s disease. Ann. Neurol. 1994; 36: 630–635.
- Illarioshkin S.N., Slominsky P.A., Ovchinnikov I.V. et al. Spinocerebellar ataxia type 1 in Russia. J. Neurol. 1996; 243: 506–510.
- MacMillan J.C., Snell R.G., Tyler A. et al. Molecular analysis and clinical correlations of the Huntington’s disease mutation. Lancet. 1993; 342: 954–958.
- Myers R.H. Huntington’s disease genetics. NeuroRx. 2004; 1: 255–262.
- Myers R.H., Goldman D., Bird E.D. et al. Maternal transmission in Huntington’s disease. Lancet. 1983; 1: 208–210.
- Nance M.A., Myers R.H. Juvenile onset Huntington’s disease – clinical and research perspectives. Ment. Retard. Dev. Disabil. Res. Rev.2001; 7: 153–157.
- Rubinsztein D.C., Amos W., Leggo J. et al. Mutational bias provides a model for the evolution of Huntington’s prevalence. Nat. Genet. 1994; 4:525–530.
- Squitieri F., Andrew S.E., Goldberg Y.P. et al. DNA haplotype analysis of Huntington disease reveals clues to the origin and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum. Mol. Genet. 1994; 3: 2103–2114.
- The Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993; 72: 971–983.
