Epidemiology of Huntington disease in Cyprus: A 20‐year retrospective study

Huntington disease (HD) is most prevalent among populations of western European descent and isolated populations where founder effects may operate. The aim of this study was to examine the epidemiology of HD in Cyprus, an island in southern Europe with extensive western European colonization in the...

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Bibliographic Details
Published in:Clinical genetics 2018-03, Vol.93 (3), p.656-664
Main Authors: Demetriou, C.A., Heraclides, A., Salafori, C., Tanteles, G.A., Christodoulou, K., Christou, Y., Zamba‐Papanicolaou, E.
Format: Article
Language:English
Subjects:
Age of Onset
Alleles
Colonization
Cyprus
Cyprus - epidemiology
Epidemiology
Female
Founder effect
Gene mapping
Genetic Predisposition to Disease
Genetic screening
Genotype
geographic clustering
Geographical distribution
Geography, Medical
Humans
Huntington disease
Huntington Disease - epidemiology
Huntington Disease - etiology
Huntington Disease - mortality
Huntington's disease
Incidence
Kaplan-Meier Estimate
Male
Population Surveillance
Prevalence
Prognosis
Retrospective Studies
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Summary:Huntington disease (HD) is most prevalent among populations of western European descent and isolated populations where founder effects may operate. The aim of this study was to examine the epidemiology of HD in Cyprus, an island in southern Europe with extensive western European colonization in the past. All registered HD patients in the Cyprus, since 1994, were included. Detailed pedigrees and clinical information were recorded and maps, showing the geographic distribution of HD, were constructed. Requests for genetic testing were also examined. The project identified 58 clinically manifested cases of HD belonging to 19 families. The 16 families of Cypriot origin were concentrated in a confined geographical cluster in southeast Cyprus. In 2015, prevalence of symptomatic HD was 4.64/100 000 population, while incidence was 0.12/100 000 person‐years. Prevalence displayed a marked increase during the past 20 years. Disease characteristics of HD patients were similar to those reported in western European populations. Lastly, the uptake of predictive and/or prenatal testing was limited. HD disease characteristics, incidence and prevalence in Cyprus were comparable to western European populations. Together with the geographical clustering observed, these results support the possibility for a relatively recent founder effect of HD in Cyprus, potentially of western European origin.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13168