Jin You-yu, Zeng Ai-ping, Cai Hai-bo, Wu Feng, Feng Zhong, Hong Qing, Zhang Li, Jiang Zhi-kai
Department of Neurology, Wenling Affiliated Hospital of Wenzhou Medical College, Zhejiang 317500, China.
Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi. 2009 Apr;23(2):132-4.
To study the clinical features and gene mutation analysis in Machado-Joseph disease of spinocerebellar ataxia type 3 in littoral of Zhejiang.
Clinical manifestation and brain MRI data 18 patients with SCA in family were analyzed. The gene mutations of 18 patients and 10 family numbers without abnormal presentation, and 12 healthy persons of controls.
The gene mutations of 18 patients is SCA3/MJD, and 2 asymptomatic SCA3/MJD had been detected in SCA family. Normal alleles of SCA3/MJD have CAG repeats ranging from 14 to 27, patients from 67 to 82, asymptomatic and carrier SCA3/MJD from 28 to 45. The main features of 18 patients included gait ataxia, ambiguity in speech and action clumsiness. Brain MRI showed remarkable atrophy on cerebellum and brain stem.
CAG expansions were related to SCA3/MJD. The clinical manifestations are ataxia and dysarthria. The detection of repeated times CAG can provide an effective way for the genetic and asymptomatic diagnosis.
研究浙江沿海地区3型脊髓小脑共济失调（马查多-约瑟夫病）的临床特征及基因突变分析。
对18例家族性脊髓小脑共济失调患者的临床表现及脑部MRI数据进行分析。检测18例患者、10例无异常表现的家系成员及12例健康对照者的基因突变情况。
18例患者的基因突变类型为SCA3/MJD，在脊髓小脑共济失调家系中检测到2例无症状SCA3/MJD。SCA3/MJD正常等位基因的CAG重复次数为14至27次，患者为67至82次，无症状及携带者为28至45次。18例患者的主要特征包括步态共济失调、言语含糊及动作笨拙。脑部MRI显示小脑和脑干明显萎缩。
CAG重复扩增与SCA3/MJD相关。临床表现为共济失调和构音障碍。检测CAG重复次数可为基因诊断及无症状诊断提供有效方法。
