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, the aim of this stu...
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BMC
2021-02-01
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| Series: | BMC Neurology |
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| Online Access: | https://doi.org/10.1186/s12883-021-02089-9 |
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| author | Katalin Despotov Dénes Zádori Gábor Veres Katalin Jakab Gabriella Gárdián Eszter Tóth Tamás Zsigmond Kincses László Vécsei András Ajtay Dániel Bereczki Péter Klivényi |
| author_facet | Katalin Despotov Dénes Zádori Gábor Veres Katalin Jakab Gabriella Gárdián Eszter Tóth Tamás Zsigmond Kincses László Vécsei András Ajtay Dániel Bereczki Péter Klivényi |
| author_sort | Katalin Despotov |
| collection | DOAJ |
| description | 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, 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. |
| first_indexed | 2024-12-14T09:16:12Z |
| format | Article |
| id | doaj.art-affe70bd44284e279073249da7ee91da |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-12-14T09:16:12Z |
| publishDate | 2021-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-affe70bd44284e279073249da7ee91da2022-12-21T23:08:26ZengBMCBMC Neurology1471-23772021-02-012111710.1186/s12883-021-02089-9Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s diseaseKatalin Despotov0Dénes Zádori1Gábor Veres2Katalin Jakab3Gabriella Gárdián4Eszter Tóth5Tamás Zsigmond Kincses6László Vécsei7András Ajtay8Dániel Bereczki9Péter Klivényi10Department of Neurology, University of SzegedDepartment of Neurology, University of SzegedDepartment of Neurology, University of SzegedDepartment of Neurology, University of SzegedDepartment of Neurology, University of SzegedDepartment of Neurology, University of SzegedDepartment of Neurology, University of SzegedDepartment of Neurology, University of SzegedDepartment of Neurology, Semmelweis UniversityDepartment of Neurology, Semmelweis UniversityDepartment of Neurology, University of SzegedAbstract 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.https://doi.org/10.1186/s12883-021-02089-9DemographicsHuntington’s diseasePopulation geneticsTrinucleotide repeat expansion |
| spellingShingle | Katalin Despotov Dénes Zádori Gábor Veres Katalin Jakab Gabriella Gárdián Eszter Tóth Tamás Zsigmond Kincses László Vécsei András Ajtay Dániel Bereczki Péter Klivényi Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease BMC Neurology Demographics Huntington’s disease Population genetics Trinucleotide repeat expansion |
| 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 | Demographics Huntington’s disease Population genetics Trinucleotide repeat expansion |
| url | https://doi.org/10.1186/s12883-021-02089-9 |
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