Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease

Abstract Background Recent advances in therapeutic options may prevent deterioration related to Huntington’s disease (HD), even at the pre-symptomatic stage. Be that as it may, a well-characterized patient population is essential for screening and monitoring outcome. Accordingly, aim of this study was describe characteristics Hungarian subpopulation HD patients mutation carriers diagnosed University Szeged. Methods We conducted search International Classification Diseases (ICD) code G10H0 local medical database period 1 January 1998 31 December 2018. Results identified 90 cases (male: 45, female: 45) 34 asymptomatic 15, 19). The median age onset 45 years (range: 16–79). There were 3 juvenile (3.3%), 7 late (7.8%). repeat length 43 36–70) pathological 19 non-pathological alleles 9–35). 17.5% decreased penetrance range, while 7% intermediate. Conclusions genetic clinical features examined present line with previous study, well international literature. exceptions higher ratio reduced intermediate alleles.