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


Journal

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175

Informations de publication

Date de publication:
Dec 2021
Historique:
received: 26 12 2020
accepted: 22 03 2021
pubmed: 2 4 2021
medline: 15 12 2021
entrez: 1 4 2021
Statut: ppublish

Résumé

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. Our research was conducted in the 5 administrative areas of Sardinia island. Case patients were ascertained through multiple sources in Sardinia and Italy. During the incidence period 53 individuals were diagnosed with clinically manifested HD. The average annual incidence rate 2009-2018 was 2.92 per 10 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.

Sections du résumé

BACKGROUND 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 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 RESULTS
During the incidence period 53 individuals were diagnosed with clinically manifested HD. The average annual incidence rate 2009-2018 was 2.92 per 10
CONCLUSIONS 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.

Identifiants

pubmed: 33792825
doi: 10.1007/s10072-021-05217-y
pii: 10.1007/s10072-021-05217-y
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

5177-5181

Subventions

Organisme : Fondazione di Sardegna
ID : 2019.1850

Informations de copyright

© 2021. Fondazione Società Italiana di Neurologia.

Références

Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, Nance M, Ross CA, Scahill RI, Wetzel R, Wild EJ, Tabrizi SJ (2015) Huntington disease. Nat Rev Dis Primers 1:15005
doi: 10.1038/nrdp.2015.5
Quarrell O, O'Donovan KL, Bandmann O, Strong M (2012) The prevalence of juvenile Huntington’s disease: a review of the literature and meta-analysis. PLoS Curr 4:e4f8606b742ef3
doi: 10.1371/4f8606b742ef3
Chaganti SS, McCusker EA, Loy CT (2017) What do we know about Late Onset Huntington’s Disease? J Huntingtons Dis 6:95–103
doi: 10.3233/JHD-170247
Capiluppi E, Romano L, Rebora P, Nanetti L, Castaldo A, Gellera C, Mariotti C, Macerollo A, Cislaghi MG (2020) Late-onset Huntington’s disease with 40-42 CAG expansion. Neurol Sci 41:869–876
doi: 10.1007/s10072-019-04177-8
Rawlins MD, Wexler NS, Wexler AR, Tabrizi SJ, Douglas I, Evans SJ, Smeeth L (2016) The prevalence of Huntington’s disease. Neuroepidemiology. 46(2):144–153
doi: 10.1159/000443738
Wexler NS, Collett L, Wexler AR, Rawlins MD, Tabrizi SJ, Douglas I, Smeeth L, Evans SJ (2016) Incidence of adult Huntington’s disease in the UK: a UK-based primary care study and a systematic review. BMJ Open 6:e009070
doi: 10.1136/bmjopen-2015-009070
Ramos-Arroyo MA, Moreno S, Valiente A (2005) Incidence and mutation rates of Huntington’s disease in Spain: experience of 9 years of direct genetic testing. J Neurol Neurosurg Psychiatry 76:337–342
doi: 10.1136/jnnp.2004.036806
Panas M, Karadima G, Vassos E et al (2011) Huntington’s disease in Greece: the experience of 14 years. Clin Genet 80:586–590
doi: 10.1111/j.1399-0004.2010.01603.x
Carrassi E, Pugliatti M, Govoni V, Sensi M, Casetta I, Granieri E (2017) Epidemiological study of Huntington’s disease in the province of Ferrara, Italy. Neuroepidemiology. 49:18–23
doi: 10.1159/000479697
Cavalli-Sforza LL, Piazza A (1993) Human genomic diversity in Europe: a summary of recent research and prospects for the future. Eur J Hum Genet 1:3–18
doi: 10.1159/000472383
Muroni A, Murru MR, Sechi M, Ercoli T, Marrosu F, Bentivoglio AR, Petracca M, Maria Scaglione CL, Soliveri P, Cocco E, Pedron M, Murgia M, Deriu M, Cuccu S, Ulgheri L, Zuccato C, Defazio G (2020) Prevalence of Huntington’s disease in Southern Sardinia, Italy. Parkinsonism Relat Disord 80:54–57
doi: 10.1016/j.parkreldis.2020.09.011
Sipilä JO, Hietala M, Siitonen A, Päivärinta M, Majamaa K (2015) Epidemiology of Huntington's disease in Finland. Parkinsonism Relat Disord 21:46–49
doi: 10.1016/j.parkreldis.2014.10.025
Roos AK (2017) iklund L, Laurell K. Discrepancy in prevalence of Huntington’s disease in two Swedish regions. Acta Neurol Scand 136:511–515
doi: 10.1111/ane.12762
Eurostat report 2013 ( https://ec.europa.eu/eurostat/documents/3859598/5926869/KS-RA-13-028-EN.PDF/e713fa79-1add-44e8-b23d-5e8fa09b3f8f )
Sahai H, Khurshid A (1996) Formulae and tables for the determination of sample sizes and power in clinical trials for testing differences in proportions for the two-sample design: a review. Stat Med 15(1):1–21
doi: 10.1002/(SICI)1097-0258(19960115)15:1<1::AID-SIM134>3.0.CO;2-E
Warby SC, Visscher H, Collins JA, Doty CN, Carter C, Butland SL, Hayden AR, Kanazawa I, Ross CJ, Hayden MR (2011) HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet 19:561–566
doi: 10.1038/ejhg.2010.229
Ylönen S, Sipilä JOT, Hietala M, Majamaa K (2019) HTT haplogroups in Finnish patients with Huntington disease. Neurol Genet 5:e334
doi: 10.1212/NXG.0000000000000334
Bruzelius E, Scarpa J, Zhao Y, Basu S, Faghmous JH, Baum A (2019) Huntington’s disease in the United States: variation by demographic and socioeconomic factors. Mov Disord 34:858–865
doi: 10.1002/mds.27653
Marder JA, Gu Y, Eberly S et al (2013) Relationship of Mediterranean diet and caloric intake to phenoconversion in Huntington disease. JAMA Neurol 70:1382–1388
pubmed: 24000094 pmcid: 4040231
Falush D, Almqvist EW, Brinkmann RR et al (2001) Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet 68:373–385
doi: 10.1086/318193
Christodoulou CC, Demetriou CA, Zamba-Papanicolaou E (2020) Dietary intake, Mediterranean diet adherence and caloric intake in Huntington’s disease: a review. Nutrients 12:2946–2971
doi: 10.3390/nu12102946

Auteurs

Antonella Muroni (A)

Institute of Neurology, Azienda Ospedaliero Universitaria di Cagliari, 09124, Cagliari, Italy. antonellamuroni79@gmail.com.

Maria R Murru (MR)

Multiple Sclerosis Centre, Binaghi Hospital, ASSL Cagliari, ATS Sardegna, Cagliari, Italy.

Lucia Ulgheri (L)

S.S.D. di Genetica e Biologia dello Sviluppo, University Hospital, Sassari, Italy.

Margherita Sechi (M)

Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Tommaso Ercoli (T)

Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Francesco Marrosu (F)

Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Cesa L Scaglione (CL)

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.

Anna Rita Bentivoglio (AR)

Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.

Martina Petracca (M)

Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.

Paola Soliveri (P)

Unit of Neurology I, Parkinson and Movement Disorders Unit, Fondazione IRCSS Istituto Neurologico Carlo Basta, Milan, Italy.
Parkinson Institute - CTO, Milan, Italy.

Eleonora Cocco (E)

Multiple Sclerosis Centre, Binaghi Hospital, ASSL Cagliari, ATS Sardegna, Cagliari, Italy.
Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Stefania Cuccu (S)

Multiple Sclerosis Centre, Binaghi Hospital, ASSL Cagliari, ATS Sardegna, Cagliari, Italy.

Marcello Deriu (M)

Neurology Service, Nostra Signora della Mercede Hospital, ATS Sardegna, San Gavino Monreale, Italy.

Chiara Zuccato (C)

Department of Biosciences, University of Milan, Milan, Italy.
Istituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi", Milan, Italy.

Giovanni Defazio (G)

Institute of Neurology, Azienda Ospedaliero Universitaria di Cagliari, 09124, Cagliari, Italy.
Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH