B Peterlin1, J Kobal, N Teran, D Flisar, L Lovrecić. 1. Institute of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Center Ljubljana, Ljubljana, Slovenia. borut.peterlin@guest.arnes.si
Abstract
OBJECTIVES: The objective of this study was to estimate the prevalence of Huntington's disease (HD) in Slovenia using direct mutation analysis. MATERIALS AND METHODS: Symptomatic patients and presymptomatic individuals at risk for HD referred to the Institute of Medical Genetics between 1997 and 2007 were included in the study. The patients were ascertained through multiple sources. The prevalence was estimated on 31 December 2006. RESULTS: A total of 116 and 68 individuals with CAG repeat number >36 were symptomatic and presymptomatic, respectively. The prevalence of HD in Slovenia was estimated at 5.16/10(5) (95% confidence interval 4.16-6.16). CONCLUSIONS: This is the first report on the epidemiology and prevalence of HD in Slovenia. The prevalence of HD is comparable with previously reported data in other European countries. In Slovenia, a higher proportion of individuals at risk for HD decide on predictive mutational testing as compared with the estimated numbers for Europe, United States, Canada and Australia.
OBJECTIVES: The objective of this study was to estimate the prevalence of Huntington's disease (HD) in Slovenia using direct mutation analysis. MATERIALS AND METHODS: Symptomatic patients and presymptomatic individuals at risk for HD referred to the Institute of Medical Genetics between 1997 and 2007 were included in the study. The patients were ascertained through multiple sources. The prevalence was estimated on 31 December 2006. RESULTS: A total of 116 and 68 individuals with CAG repeat number >36 were symptomatic and presymptomatic, respectively. The prevalence of HD in Slovenia was estimated at 5.16/10(5) (95% confidence interval 4.16-6.16). CONCLUSIONS: This is the first report on the epidemiology and prevalence of HD in Slovenia. The prevalence of HD is comparable with previously reported data in other European countries. In Slovenia, a higher proportion of individuals at risk for HD decide on predictive mutational testing as compared with the estimated numbers for Europe, United States, Canada and Australia.
Authors: Sheharyar S Baig; Mark Strong; Elisabeth Rosser; Nicola V Taverner; Ruth Glew; Zosia Miedzybrodzka; Angus Clarke; David Craufurd; Oliver W Quarrell Journal: Eur J Hum Genet Date: 2016-05-11 Impact factor: 4.246