Epidemiological Study of Huntington's Disease in the Province of Ferrara, Italy

Abstract

Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of CAG triplet repeat. We aimed to reappraise HD epidemiology in a northern Italian population, in relation to introduction of genetic testing. Methods: Through ICD-9M code 333.4 and medical fare exemption code RF0080, HD cases were identified from administrative health data and medical records from the Units of Neurology and Genetics, Ferrara University Hospital, and from other provincial neurological structures. Results: HD mean annual incidence rate in 1990-2009 was 0.3 per 100,000 (95% CI 0.2-0.5). All incident cases were found to have symptoms of the disease's classic form, and neither juvenile nor the rigid Westphal variant was detected. The mean (SD) age at onset was 50.2 (12.7 years; range 32-82 years), 54.9 (14.6) for men and 45.8 (9.4) for women. On prevalence day, December 31, 2014, HD prevalence was 4.2 per 100,000 (95% CI 2.4-7.0), with a male:female ratio of 1:2. Conclusions: The prevalence and incidence of HD in our population were lower than the prevalence and incidence reported for other European and Italian populations, but higher compared to those of Asia, Africa, and Eastern Europe. Compared to previous studies, HD incidence and prevalence did not change significantly.

Epidemiologic characteristics of a Hungarian subpopulation of Huntington’s Disease patients

“…The median age of onset (45 years) was close to the European Huntington's Disease Network's estimates for Central Europe (47 years) but it was lower than those of Northern (50 years) or Southern Europe (49 years) as well as that of United Kingdom (49 years) (4,6,11).…”

“…The age of disease onset is widely variable, the average is estimated to be between 30-50 years (1,3,4,6,7), but it can occur during early childhood as well as above 60 years (3,4,8). Cases where the disease manifests itself before the age of 20 are called juvenile type HD, whereas cases presenting symptoms after the age of 60 are termed late onset HD (8)(9)(10)(11). Juvenile HD accounts for approximately 5% of all HD cases, and are usually characterised by large repeat numbers and paternal transmission (10,12).…”

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

“…This complex landscape contributes to an uncertain epidemiology for HD and incidence rates are probably underestimated despite the progress in the knowledge of this disease in recent years [17].…”

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.…”

“…This complex landscape contributes to an uncertain epidemiology for HD and incidence rates are probably underestimated despite the progress in the knowledge of this disease in recent years [18].…”