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

Abstract

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.

Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain

“…These estimates are within the contemporary European range [3,34] and in concordance with our general population CAG repeat length distribution (data not shown). Prevalence, however, is lower than that reported in the United Kingdom [7] or Ireland [35], higher than in some northern European countries like Finland [36] or Iceland [37], and in line with other southern European populations [38][39][40][41]. Other post molecular studies carried out in Spain have also reported comparable HD prevalence figures (4.6 and 4.0, per 100,000 in Asturias and Murcia, respectively [42,43]; in contrast, lower prevalence was observed for Balearic Islands (2 per 100,000) [43].…”

Genetic and Environmental Factors Contributing to Parkinson's Disease: A Case-Control Study in the Cypriot Population

“…This renders genetic studies in the Cypriot population informative for the genetically similar populations as well. Characteristic of the genetic admixture and of the peculiarity of the Cypriot population are the geographical clusters of other neurological genetic diseases such as Friedreich ataxia, Huntington disease, and Familial Amyloid Polyneuropathy (13–15). Therefore, the investigation of the epidemiology of other neurological diseases such as PD in the Cypriot population is of particular interest.…”

Incidence of Huntington disease in a northeastern Spanish region: A 13-year retrospective study at tertiary care centre

“…In other European countries, the incidence rates calculated were the following, all of them per 100.000 person-years: 0.3 in the province of Ferrara, northern Italy (1990-2009) [18]; 1.8 in Germany (2015-2016) [19]; 0.14 in Iceland (1988)(1989)(1990)(1991)(1992)(1993)(1994)(1995)(1996)(1997)(1998)(1999)(2000)(2001)(2002)(2003)(2004)(2005)(2006)(2007) [20]; the minimum incidence rate was 0.22, being able to reach 0.44 in Greece (1995Greece ( -2008 [21]; 0.25 in Cyprus (1984-2015) [22]; and 0,72 in United Kingdom (1990-2010) [23]. So, the incidence of HD varies from 0.14 to 1.8 per 100.000 person-years in Europe.…”