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 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.
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Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s Disease
Posted 12 Jan, 2021
On 29 Dec, 2020
On 29 Dec, 2020
On 29 Dec, 2020
Posted 01 Dec, 2020
On 01 Dec, 2020
Received 27 Nov, 2020
Received 24 Nov, 2020
On 26 Oct, 2020
On 23 Oct, 2020
Invitations sent on 15 Oct, 2020
On 06 Oct, 2020
On 05 Oct, 2020
On 05 Oct, 2020
On 07 Sep, 2020
On 15 Aug, 2020
Received 15 Aug, 2020
Received 15 Aug, 2020
On 15 Aug, 2020
On 14 Aug, 2020
Received 03 Aug, 2020
On 14 Jul, 2020
Invitations sent on 13 Jul, 2020
On 06 Jul, 2020
On 05 Jul, 2020
On 05 Jul, 2020
On 03 Jul, 2020
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.
Figure 1
Figure 2
Figure 3
Figure 4