Prevalence of Huntington's disease in Southern Sardinia, Italy. (November 2020)

• Record Type: Journal Article
• Authors: Muroni, Antonella; Murru, Maria Rita; Sechi, Margherita; Ercoli, Tommaso; Marrosu, Francesco; Bentivoglio, Anna Rita; Petracca, Martina; Maria Scaglione, Cesa Lorella; Soliveri, Paola; Cocco, Eleonora; Pedron, Monica; Murgia, Moreno; Deriu, Marcello; Cuccu, Stefania; Ulgheri, Lucia; Zuccato, Chiara; Defazio, Giovanni
• Is Part Of: Parkinsonism & related disorders. Volume 80(2020)
• Page Start: 54
• Page End: 57
• Publication Date: 2020-11
• Subjects: Huntington's disease -- Prevalence; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2020.09.011
• Languages: English
• ISSNs: 1353-8020

Abstract

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 × 10 5 to 10.8 × 10 5 . 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 × 10 5 in the overall study area, however with marked variations between South Sardinia and Cagliari (9.6 × 10 5 vs. 3.0 × 10 5, 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. Highlights: Prevalence of Huntington's disease in Italy. Epidemiology of rare diseases in Italy. Microgeographic variations in the prevalence of Huntington's disease.