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The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy

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Abstract

The few epidemiological studies conducted to date on the heterogeneous group of hereditary spastic paraplegias (HSPs) indicate a prevalence of 1.27–12.1 per 100,000. This study aims to explore the epidemiological, clinical, and genetic variability of HSPs among Sardinians, a population of peculiar ethnicity.A population-based prevalence study was performed in north-western Sardinia between January 2000 and December 2010. Multiple sources were used for case ascertainment. Familial and sporadic cases were diagnosed according to generally accepted criteria, and clinical diagnoses were validated by expert neurological examination. Clinical data and pedigree information were recorded and blood samples drawn for genetic testing.Sixty-seven HSP patients were included in the study: 59 belonged to 11 families with autosomal dominant transmission (AD-HSP), three cases were from two unrelated autosomal recessive families, and the remaining five cases were apparently sporadic. On 31 December 2010, the total crude prevalence was 19.9 per 100,000 (95 % CI 18.4–21.4), while the crude prevalence of AD-HSP was 17.5 (24.4 M, 15.7 F; M:F ratio 1.55). The mean age at examination was 48.4 years, and the mean age at onset of HSP was 36.6 years. A molecular diagnosis was obtained in 82.1 % of the cases (52 cases with mutations in SPAST/SPG4, two in SPG7, and one in SPG11).The prevalence of HSP among Sardinians is high compared with other Western European populations. The multiple search strategy used in this study and the specific socio-demographic characteristics of Sardinians may account for this finding.

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Acknowledgments

We acknowledge for their financial support: Telethon Italy (grant n. GPP10121A to F.M.S) and the Federazione Italiana Donne Arti Professioni Affari (International Federation of Business and Professional Women, FIDAPA), Porto Torres, Italy.

Dr. Nino Tedde is fully acknowledged for his contribution in informing GPs in the study area on study aims and for supporting us throughout the study. The authors also thank the Associazione Vivere la Paraparesi Spastica Onlus-VIPS (www.vipsonlus.it) for their continuous support, and Dr. Catherine J. Wrenn for her expert editorial assistance.

Conflicts of interest

The authors declare that they have not conflict of interest.

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Authors and Affiliations

  1. Department of Clinical and Experimental Medicine, University of Sassari, Viale San Pietro 10, Sassari, Italy

    Loretta Racis, Virgilio Agnetti & Maura Pugliatti

  2. Department of Biomedical Sciences, University of Sassari, Sassari, Italy

    Loretta Racis

  3. IRCCS Stella Maris, Pisa, Italy

    Alessandra Tessa, Eugenia Storti & Filippo M. Santorelli

  4. Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Latina, Italy

    Roberto Di Fabio & Carlo Casali

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  1. Loretta Racis
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  2. Alessandra Tessa
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  3. Roberto Di Fabio
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  4. Eugenia Storti
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  5. Virgilio Agnetti
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  6. Carlo Casali
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  7. Filippo M. Santorelli
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  8. Maura Pugliatti
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Correspondence to Maura Pugliatti.

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Racis, L., Tessa, A., Di Fabio, R. et al. The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy. J Neurol 261, 52–59 (2014). https://doi.org/10.1007/s00415-013-7151-4

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  • DOI: https://doi.org/10.1007/s00415-013-7151-4

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