Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington's Disease [post]

Katalin Despotov, Dénes Zádori, Gábor Veres, Katalin Jakab, Gabreilla Gárdián, Eszter Tóth, Tamás Zsigmond Kincses, Laszlo Vecsei, Andras Ajtay, Dániel Bereczki, Peter Klivenyi
2021 unpublished
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, 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
more » ... onal Classification of Diseases (ICD) code G10H0 in the local medical database for the period of 1 January 1998 to 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 onset (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 were in the decreased penetrance range, while 7% of non-pathological alleles were intermediate. Conclusions: The genetic and clinical features of the population examined in the present study were in line with the previous Hungarian study, as well as with international literature. The exceptions were the higher ratio of reduced penetrance and intermediate alleles.
doi:10.21203/rs.3.rs-41139/v2 fatcat:bx2d3nwahbdetpcqhbijbwlnq4