Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients
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DOI：
10.1002/ajmg.10514
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发表时间：
2002-07-08
期刊：
影响因子：
--
通讯作者：
Kawakami, H
中科院分区：
文献类型：
--
作者：
Maruyama, H;Izumi, Y;Kawakami, H
在脊髓小脑性共济失调（SCA）1、2、6、7、12和17型、马查多-约瑟夫病（MJD/SCA 3）和齿状核红核苍白球路易体萎缩（DRPLA）中发现了三核苷酸重复序列的扩增。然而，日本家族性SCA的发生率仍不清楚。确定了1，286名患者的三核苷酸重复序列数。330个家系（523例）为常染色体显性遗传组（A组），165个家系有家族史但无常染色体显性遗传组（B组），598例为散发组（C组）。SCA亚型在常染色体显性遗传组中的分布频率为：SCA 1占5.5%，SCA 2占2.4%，MJD/SCA 3占27.6%，SCA 6占25.5%，SCA 17占0.3%，DRPLA占7.3%。未检测到SCA 12的异常扩增。另外31.5%的常染色体显性遗传病患者存在未知的遗传异常。在B组中，SCA 6是最突出的，在散发组中，MJD/SCA 3和SCA 6是观察到的最常见亚型。SCA 6的无病生存曲线与其他类型的SCAs不同，SCA 6的平均发病年龄晚于其他类型。SCA亚型的相对比例存在地区差异。MJD/SCA 3在日本的关东和九州地区更常见，而SCA 6在中国地区最常见。为了建立一个有效的社会福利制度，为SCA患者，临床过程和SCA亚型的流行率的地区差异必须考虑。(C)2002 Wiley-Liss，Inc.
Expansions of trinucleotide repeats have been discovered in spinocerebellar ataxia (SCA) types 1, 2, 6, 7, 12, and 17, Machado-Joseph disease (MJD/SCA3), and dentatorubropallidoluysian atrophy (DRPLA). However, the frequency of familial SCA in Japan remains unclear. The number of trinucleotide repeats was determined for 1,286 patients. Three hundred and thirty families (523 cases) were autosomal dominant group (A), and 165 families were positive for family history but not autosomal dominant group (B), while the remaining 598 cases were the sporadic group (C). The frequency of SCA subtypes in autosomal dominant group was: 1) 5.5% for SCA1; 2) 2.4% for SCA2; 3) 27.6% for MJD/SCA3; 4) 25.5% for SCA6; 5) 0.3% for SCA17; and 6) 7.3% for DRPLA. Abnormal expansion of SCA12 was not detected. Another 31.5% of the patients in the autosomal dominant group had unknown genetic abnormalities. Within group B, SCA6 was the most prominent and within the sporadic group MJD/SCA3 and SCA6 were the most common subtypes observed. The disease-free survival curve of SCA6 was different from that of other SCAs and the mean age at onset for SCA6 was found to be later than that of the other types. Regional differences were observed in the relative rate of SCA subtypes. MJD/SCA3 appears more common in the Kanto and Kyushu districts of Japan, whereas SCA6 is most common in the Chugoku district. In order to establish an effective social welfare system for SCA patients, clinical course and regional differences in the prevalence of SCA subtypes must be taken into consideration. (C) 2002 Wiley-Liss, Inc.