The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland
The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland
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DOI：
10.1136/jnnp.72.1.43
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发表时间：
2002-01-01
影响因子：
11
通讯作者：
Hutchinson, M
中科院分区：
文献类型：
--
作者：
Mc Monagle, P;Webb, S;Hutchinson, M
目的：遗传性痉挛性下肢轻瘫（HSP）是一种临床和遗传异质性疾病。“纯”常染色体显性（AD）HSP是最常见的，迄今已鉴定出8个遗传位点。以前的研究包括常染色体隐性遗传和散发病例的患病率计算。本研究旨在确定纯ADHSP在爱尔兰岛的患病率和特点。方法：指数情况下，确定从5年的调查，所有成人和儿科神经学家，临床遗传学家，医院记录，并在爱尔兰，北部和南部的医院住院病人查询系统的数据。家庭由两名神经科医生检查，并根据特定标准分为受影响或未受影响。2000年6月1日为ADHSP的流行日期，上一年的年中人口估计数为543.6万。结果：从19个家系中检出82例ADHSP纯合子和12例ADHSP纯合子携带者。在患病日期，共有69例纯ADHSP患者存活并居住在爱尔兰。百分之二十九的这些是无症状的，但与paraperis.Conclusions的迹象：ADHSP在爱尔兰的患病率估计为1.27/10万人口。无症状病例和专性携带者的比例很高，这意味着这种情况可能被诊断不足。
Objectives: Hereditary spastic paraparesis (HSP) is clinically and genetically heterogeneous. "Pure" autosomal dominant (AD) HSP is most common and eight genetic loci are identified to date. Previous studies have included autosomal recessive and sporadic cases in prevalence calculations. This study aimed to determine the prevalence and features of pure ADHSP in the island of Ireland.Methods: Index cases were identified from a 5 year survey of all adult and paediatric neurologists, clinical geneticists, hospital records, and hospital inpatient enquiry system data in Ireland, north and south. Families were examined by two neurologists and classified as affected or unaffected according to specific criteria. The prevalence date was set at I June 2000 and the midyear population estimate for the previous year was 5.436 million.Results: Eighty two patients with pure ADHSP and a further 12 obligate carriers from 19 families were identified. In total 69 patients with pure ADHSP were alive and resident in Ireland at the prevalence date. Twenty nine per cent of these were asymptomatic but with signs of paraparesis.Conclusions: The prevalence of ADHSP in Ireland to estimated to be 1.27/100 000 population. The high proportion of asymptomatic cases and obligate carriers means that this condition is likely to be underdiagnosed.