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

Racis, Loretta and Tessa, Alessandra and Di Fabio, Roberto and Storti, Eugenia and Agnetti, Virgilio and Casali, Carlo and Santorelli, Filippo M. and Pugliatti, Maura (2014) The High prevalence of hereditary spastic paraplegia in Sardinia, insular Italy. Journal of Neurology, Vol. 261 (1), p. 52-59. ISSN 0340-5354. eISSN 1432-1459. Article.

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DOI: 10.1007/s00415-013-7151-4


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.

Item Type:Article
ID Code:10527
Uncontrolled Keywords:Hereditary spastic paraplegia, prevalence, Sardinia, epidemiology
Subjects:Area 06 - Scienze mediche > MED/26 Neurologia
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Biomediche
001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Medicina Clinica e Sperimentale
Publisher:Springer Berlin / Heidelberg
Deposited On:09 Dec 2014 09:38

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