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 Republic, 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 sixteen 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.
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