Epidemiologic characteristics of a Hungarian subpopulation of Huntington’s Disease patients

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