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首页> 外文期刊>Journal of neurology >The high prevalence of hereditary spastic paraplegia in Sardinia,insular Italy
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The high prevalence of hereditary spastic paraplegia in Sardinia,insular Italy

机译：意大利撒丁岛的遗传性痉挛性截瘫高发

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摘要

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 SPGll).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.
机译：迄今为止，针对遗传性痉挛性截瘫（HSPs）的异质性群体进行的少数流行病学研究表明，患病率为每10万例1.27-12.1。这项研究旨在探讨撒丁岛人（特殊种族）中HSPs的流行病学，临床和遗传变异性。2000年1月至2010年12月在西北撒丁岛进行了一项基于人群的患病率研究。该病例使用了多种来源确定性。根据公认的标准诊断家族性和散发性病例，并通过专家神经系统检查证实临床诊断。记录临床数据和谱系信息并抽取血液样本进行基因检测。该研究包括67例HSP患者：59属于11个常染色体显性遗传家族（AD-HSP），其中3例来自两个无关的常染色体隐性遗传家族，其余5例显然是零星的。截至2010年12月31日，原油总流行率为100,000（19.9）（95％CI 18.4-21.4），而AD-HSP原油总流行率为17.5（24.4 M，15.7 F; M：F比1.55）。检查的平均年龄为48.4岁，HSP发作的平均年龄为36.6岁。在82.1％的病例中获得了分子诊断（SPAST / SPG4突变52例，SPG7突变2例，SPGll突变1例）。撒丁岛人中HSP的患病率比西欧其他人群高。这项研究中使用的多重搜索策略和撒丁岛的特定社会人口学特征可能解释了这一发现。

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