Geographic differences in the incidence of Huntington’s disease in Sardinia, Italy

Antonella Muroni, Maria R. Murru, Lucia Ulgheri, Margherita Sechi, Tommaso Ercoli, Francesco Marrosu, Cesa L. Scaglione, Anna Rita Bentivoglio, Martina Petracca, Paola Soliveri, Eleonora Cocco, Stefania Cuccu, Marcello Deriu, Chiara Zuccato, Giovanni Defazio

Risultato della ricerca: Contributo in rivistaArticolo in rivista


Background: The frequency of Huntington’s disease (HD) may vary considerably, with higher estimates in non-Asian populations. We have recently examined the prevalence of HD in the southern part of Sardinia, a large Italian Mediterranean island that is considered a genetic isolate. We observed regional microgeographic differences in the prevalence of HD across the study area similar to those recently reported in other studies conducted in European countries. To explore the basis for this variability, we undertook a study of the incidence of HD in Sardinia over a 10-year period, 2009 to 2018. Methods: Our research was conducted in the 5 administrative areas of Sardinia island. Case patients were ascertained through multiple sources in Sardinia and Italy. Results: During the incidence period 53 individuals were diagnosed with clinically manifested HD. The average annual incidence rate 2009–2018 was 2.92 per 106 persons-year (95% CI, 2.2 to 3.9). The highest incidence rate was observed in South Sardinia (6.3; 95% CI, 4.2–9.5). This rate was significantly higher (p<0.01) than the rates from Cagliari, Oristano, and Sassari provinces but did not significantly differ (p = 0.38) from the Nuoro rate. Conclusions: The overall incidence of HD in Sardinia is close to the correspondent estimates in Mediterranean countries. Our findings highlight also the possibility of local microgeographic variations in the epidemiology of HD that might reflect several factors, including a possible founder effect in the rural areas of South Sardinia and Nuoro.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaNeurological Sciences
Stato di pubblicazionePubblicato - 2021


  • Huntington disease
  • Incidence


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