Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds
Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds
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DOI：
10.1001/archneur.60.11.1566
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发表时间：
2003-11-01
影响因子：
--
通讯作者：
Kim, HJ
中科院分区：
文献类型：
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作者：
Bang, OY;Huh, K;Kim, HJ
背景资料：脊髓小脑性共济失调（SCAs）患者的临床和磁共振成像结果的比较研究很少报道。目的：探讨韩国儿童脊髓小脑性共济失调的临床、遗传和神经放射学特征。SCA 1、2、3、6型的分子分析，对67例共济失调患者进行了齿状核红核苍白球路易体萎缩和磁共振成像检查。6种SCA的总体患病率为54%（67例患者中的36例），与患者的家族史无关。最常见的类型是SCA7（11例患者，16%），其次是SCA3和SCA6（10例患者，15%）。某些临床特征表明特定的基因缺陷，尽管6种SCA亚型之间的重叠很广泛：SCA3和SCA6患者出现视力障碍，SCA6患者1例出现肌张力障碍，SCAT患者1例出现不伴色素性视网膜病变的散发性共济失调。SCAs伴多系统萎缩者第四脑室明显扩大，小脑萎缩（P
Background: Comparative studies of clinical and magnetic resonance imaging findings in patients with spinocerebellar ataxias (SCAs) have been seldom reported.Objective: To investigate clinical, genetic, and neuroradiological characteristics of SCAs in Korean kindreds.Setting: University hospital.Patients and Methods: Molecular analysis of SCA types 1, 2, 3, 6, and 7 and dentatorubral pallidoluysian atrophy and magnetic resonance imaging were performed in 67 patients with ataxia.Results: The overall prevalence of 6 types of SCAs was 54% (36 of 67 patients), irrespective of patients' family histories. The most frequent type was SCA7 (11 patients, 16%), followed by SCA3 and SCA6 (10 patients, 15% for both). Certain clinical features suggested specific gene defects, although overlap among the 6 SCA sub-types was broad: visual disturbance was noted in patients with SCA3 and SCA6, dystonia in I patient with SCA6, and sporadic ataxia without pigmentary retinopathy in 1 patient with SCAT Compared with the control subjects, patients with SCAs and multisystem atrophy had a significant enlargement of the fourth ventricle and atrophy of the cerebellum (P