Song Xing-wang, Tang Bei-sha, Jiang Hong, Shen Lu, Yang Qian, Liao Shu-sheng, Li Qing-hua, Tang Jian-guang
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2006 Oct;31(5):702-5.
To determine the frequency of different subtypes of spinocerebellar ataxias (SCAs) in the Han nationality of Hunan province in China.
The mutations of SCA1, SCA2, SCA3, SCA6, SCA7, SCA17, and dentatorulral-pallidoluysian (DRPLA) were detected with the polymerase chain reaction (PCR), denaturing polyacrylamide gel and DNA sequencing techniques in 139 autosomal dominant SCA families and 61 sporadic SCA patients.
Of the 139 families, 11 (7.9%) were positive for SCA1, 9(6.5%) were positive for SCA2, 71 (51.1%) were positive for SCA3, 4 (2.9%) were positive for SCA6, 2 (1.4%) were positive for SCA7, and none was positive for SCA17 and DRPLA. There was 1 SCA2 patient, 3 SCA3 patients, 1 SCA6 patient in the 61 sporadic SCA patients.
The frequency of SCA3 is substantially higher than that of SCA1 and SCA2 in the autosomal dominant SCA patients in the Han nationality of Hunan province. SCA6 and SCA7 are rare subtypes.
确定中国湖南省汉族人群中脊髓小脑共济失调（SCA）不同亚型的发生率。
采用聚合酶链反应（PCR）、变性聚丙烯酰胺凝胶电泳及DNA测序技术，对139个常染色体显性遗传性SCA家系及61例散发SCA患者进行SCA1、SCA2、SCA3、SCA6、SCA7、SCA17及齿状核-红核-苍白球-路易体萎缩症（DRPLA）基因突变检测。
139个家系中，SCA1阳性11个（7.9%），SCA2阳性9个（6.5%），SCA3阳性71个（51.1%），SCA6阳性4个（2.9%），SCA7阳性2个（1.4%），SCA17及DRPLA均为阴性。61例散发SCA患者中，SCA2患者1例，SCA3患者3例，SCA6患者1例。
湖南省汉族常染色体显性遗传性SCA患者中SCA3的发生率显著高于SCA1和SCA2。SCA6和SCA7为罕见亚型。
