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

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 t...

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Autores principales: Despotov, Katalin, Zádori, Dénes, Veres, Gábor, Jakab, Katalin, Gárdián, Gabriella, Tóth, Eszter, Kincses, Tamás Zsigmond, Vécsei, László, Ajtay, András, Bereczki, Dániel, Klivényi, Péter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7890867/
https://www.ncbi.nlm.nih.gov/pubmed/33602179
http://dx.doi.org/10.1186/s12883-021-02089-9
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author Despotov, Katalin
Zádori, Dénes
Veres, Gábor
Jakab, Katalin
Gárdián, Gabriella
Tóth, Eszter
Kincses, Tamás Zsigmond
Vécsei, László
Ajtay, András
Bereczki, Dániel
Klivényi, Péter
author_facet Despotov, Katalin
Zádori, Dénes
Veres, Gábor
Jakab, Katalin
Gárdián, Gabriella
Tóth, Eszter
Kincses, Tamás Zsigmond
Vécsei, László
Ajtay, András
Bereczki, Dániel
Klivényi, Péter
author_sort Despotov, Katalin
collection PubMed
description 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 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12883-021-02089-9.
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spelling pubmed-78908672021-02-22 Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease Despotov, Katalin Zádori, Dénes Veres, Gábor Jakab, Katalin Gárdián, Gabriella Tóth, Eszter Kincses, Tamás Zsigmond Vécsei, László Ajtay, András Bereczki, Dániel Klivényi, Péter BMC Neurol Research Article 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 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12883-021-02089-9. BioMed Central 2021-02-18 /pmc/articles/PMC7890867/ /pubmed/33602179 http://dx.doi.org/10.1186/s12883-021-02089-9 Text en © The Author(s) 2021 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research Article
Despotov, Katalin
Zádori, Dénes
Veres, Gábor
Jakab, Katalin
Gárdián, Gabriella
Tóth, Eszter
Kincses, Tamás Zsigmond
Vécsei, László
Ajtay, András
Bereczki, Dániel
Klivényi, Péter
Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease
title Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease
title_full Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease
title_fullStr Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease
title_full_unstemmed Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease
title_short Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease
title_sort genetic epidemiological characteristics of a hungarian subpopulation of patients with huntington’s disease
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7890867/
https://www.ncbi.nlm.nih.gov/pubmed/33602179
http://dx.doi.org/10.1186/s12883-021-02089-9
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