Genetic features of Huntington disease in Cuban population: Implications for phenotype, epidemiology and predictive testing
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- 作者：Yaime茅 V谩zquez-Mojena ; Leonides Laguna-Salvia ; Jos茅 M. Laffita-Mesa ; Yanetza Gonz谩lez-Zald铆var ; Luis E. Almaguer-Mederos ; Roberto Rodr铆guez-Labrada ; Dennis Almaguer-Gotay ; Pedro Zayas-Feria ; Luis Vel谩zquez-P茅rez
- 关键词：Huntington's disease ; HTT gene ; CAG repeats ; Molecular testing ; Intermediate alleles ; Epidemiology ; Chorea ; Neurodegenerative disease
- 刊名：Journal of the Neurological Sciences
- 出版年：15 December, 2013
- 年：2013
- 卷：335
- 期：1-2
- 页码：101-104
- 全文大小：336 K
文摘
Huntington disease is the most frequent polyglutamine disorder with variable worldwide prevalence. Although some Latin American populations have been studied, HD prevalence in Cuban population remains unknown. In order to characterize the disease in Cuba, the relative frequency of HD was determined by studying 130 patients with chorea and 63 unrelated healthy controls, emphasizing in the molecular epidemiology of the disease. Sixty-two patients with chorea belonging to 16 unrelated families carried a pathological CAG expansion in the HTT gene, ranging from 39 to 67 repeats. Eighty-three percent of them come from the eastern region of the country. A significant inverse correlation between age at onset and expanded CAG repeats was seen. Intermediate alleles in affected individuals and controls represented 4.8% and 3.97% respectively, which have been a putative source of de novo mutation. This study represents the largest molecular characterization of Huntington disease in the Cuban population. These results may have significant implications for an understanding of the disease, its diagnosis and prognosis in Cuban patients, giving health professionals the tools to implement confirmatory genetic testing, pre-symptomatic testing and clinical trials in this population.