Session Information
Date: Monday, September 23, 2019
Session Title: Huntington’s Disease
Session Time: 1:45pm-3:15pm
Location: Agora 3 West, Level 3
Objective: We have performed a service-based epidemiological analysis extended to the population residing in Sardinia. The socio-cultural isolation of this large Mediterranean island makes genetic structure of Sardinians more homogeneous than the Italian population (and also of many European populations).On the prevalence date, December 31st, 2017, there were 1.648.176 inhabitants.
Background: The prevalence of Huntington disease (HD) may vary considerably, depending on the population and geographc area under study. In Italy, only two epidemiological estimation were reported after the genetic diagnostic test became available in1993. The prevalence estimates from the two studies (one published in abstract form alone) referred to restricted geographic areas from continental Italy and ranged between 2.48/100000 [1] and 10.85/100000 [2].
Method: To identify HD patients we referred to multiple sources, including 10 local neurological services, other major neurological services in Italy, and the only one Sardinian reference point for genetic testing.
Results: A total of 51 symptomatic HD patients, aged 21 years or more, were identified. The correspondent prevalence rate was 3.1 per 100,000 inhabitants. The median CAG repeat lengths in normal allelles from both affected and unaffected individuals was 18 (range, 15 to 24).
Conclusion: Crude prevalence rates were remarkably higher in the inner part of Sardinia (Nuoro county: 4.3/100.000 inhabitants; and South Sardinia county: 4.8/100.000) than in the other counties (Cagliari county: 2.1/100.000 inhabitants; Sassari county: 3.04/100.000 inhabitants; Oristano county: 0.62/100.000), thus suggesting a founder effect.
References: [1] Reverberi L, Contardi S, Fioravanti V, Cavallieri F, Codeluppi L, Valzania F. Epidemiological study on Huntington’s disease in the districts of Modena and Reggio Emilia (Italy). [Abstract]. Mov. Disord. 29, Suppl 1: 582 (2014). [2] Squitieri F, Griguoli A, Capelli G, Porcellini A, D’Alessio B. Epidemiology of Huntington disease: first post-HTT gene analysis of prevalence in Italy. Clin Genet. 2016 Mar;89(3):367-70.
To cite this abstract in AMA style:
A. Muroni, MR. Murru, T. Ercoli, V. Melas, E. Casaglia, M. Melis, E. Cocco, G. Defazio. Prevalence of Huntington’s Disease in Sardinia, Italy [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/prevalence-of-huntingtons-disease-in-sardinia-italy/. Accessed November 22, 2024.« Back to 2019 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/prevalence-of-huntingtons-disease-in-sardinia-italy/