Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s Disease
| Autor: | Dénes Zádori, László Vécsei, Katalin Jakab, Péter Klivényi, András Ajtay, Dániel Bereczki, Gábor Veres, Tamás Z. Kincses, Eszter Tóth, Katalin Despotov, Gabriella Gárdián |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Adolescent Population genetics Population Disease lcsh:RC346-429 03 medical and health sciences Young Adult 0302 clinical medicine Huntington's disease Epidemiology Medicine Humans Allele Age of Onset education lcsh:Neurology. Diseases of the nervous system 030304 developmental biology Aged 0303 health sciences education.field_of_study Hungary Huntingtin Protein business.industry General Medicine Middle Aged medicine.disease Penetrance Huntington Disease Trinucleotide repeat expansion Demographics Female Neurology (clinical) Age of onset business Asymptomatic carrier 030217 neurology & neurosurgery Research Article Huntington’s disease |
| Zdroj: | BMC Neurology BMC Neurology, Vol 21, Iss 1, Pp 1-7 (2021) |
| DOI: | 10.21203/rs.3.rs-41139/v2 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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