Antonella Muroni1, Maria R Murru2, Lucia Ulgheri3, Margherita Sechi4, Tommaso Ercoli4, Francesco Marrosu4, Cesa L Scaglione5, Anna Rita Bentivoglio6, Martina Petracca6, Paola Soliveri7,8, Eleonora Cocco2,4, Stefania Cuccu2, Marcello Deriu9, Chiara Zuccato10,11, Giovanni Defazio12,4. 1. Institute of Neurology, Azienda Ospedaliero Universitaria di Cagliari, 09124, Cagliari, Italy. antonellamuroni79@gmail.com. 2. Multiple Sclerosis Centre, Binaghi Hospital, ASSL Cagliari, ATS Sardegna, Cagliari, Italy. 3. S.S.D. di Genetica e Biologia dello Sviluppo, University Hospital, Sassari, Italy. 4. Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy. 5. IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. 6. Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. 7. Unit of Neurology I, Parkinson and Movement Disorders Unit, Fondazione IRCSS Istituto Neurologico Carlo Basta, Milan, Italy. 8. Parkinson Institute - CTO, Milan, Italy. 9. Neurology Service, Nostra Signora della Mercede Hospital, ATS Sardegna, San Gavino Monreale, Italy. 10. Department of Biosciences, University of Milan, Milan, Italy. 11. Istituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi", Milan, Italy. 12. Institute of Neurology, Azienda Ospedaliero Universitaria di Cagliari, 09124, Cagliari, Italy.
Abstract
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.
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.