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Prevalence of Huntington's disease in Southern Sardinia, Italy
- Publication Year :
- 2020
- Publisher :
- Elsevier Ltd, 2020.
-
Abstract
- Background The frequency of Huntington's disease (HD) may vary considerably, with higher estimates in non Asian populations. In Italy, two recent studies performed in Ferrara county and Molise provided different prevalence estimates, varying from 4.2 × 105 to 10.8 × 105. Here we present a study performed in the Southern part of Sardinia, a large Italian mediterranean island that is considered a genetic isolate. Methods The study area included the two neighbouring counties of South Sardinia and Cagliari with 353,830 and 431,955 inhabitants respectively on December 31st, 2017 (prevalence date). Case-patients were ascertained through multiple sources in Sardinia and Italy. Results We identified 54 individuals with HD, of whom 47 were alive on prevalence date. The resulting prevalence rate was 5.98 × 105 in the overall study area, however with marked variations between South Sardinia and Cagliari (9.6 × 105 vs. 3.0 × 105, p = 0.02). In the two study areas, we found similar CAG repeat length in normal alleles (17.5 ± 2.1 vs. 17.7 ± 2.2, p = 0.5). Conclusions The overall prevalence of HD in Sardinia is close to the correspondent estimates in Europeans. Our findings also highlighted the possibility of local microgeographic variations in the epidemiology of HD.
- Subjects :
- Adult
Male
0301 basic medicine
Mediterranean climate
medicine.medical_specialty
Prevalence
Disease
Mediterranean Islands
03 medical and health sciences
0302 clinical medicine
Huntington's disease
Epidemiology
medicine
Humans
Allele
Aged
Middle Aged
medicine.disease
Settore MED/26 - NEUROLOGIA
Huntington Disease
030104 developmental biology
Geography
Italy
Neurology
Female
Neurology (clinical)
Geriatrics and Gerontology
Genetic isolate
030217 neurology & neurosurgery
Demography
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....2da9daa22ca4ea2e1f3b78eae8d63e03