脊髓小脑共济失调2个家系的临床表现、影像学和基因型分析

Two pedigrees of spinocerebellar ataxia:Clinical manifestation,imaging characteristics and genotype

目的分析脊髓小脑共济失调(SCA)2个家系的临床表现、影像学特点和基因型及三者之间的联系。方法描述SCA2个家系部分成员的临床表现、总结其特点,对部分患者行头部磁共振检查,同时抽取2ml外周血对其进行基因检测。结果家系Ⅰ经基因检测证实为SCA2,先证者、先证者母亲、哥哥的CAG重复数目分别为44、36、38次,磁共振显示脑干、小脑萎缩,脑桥"十字征"、"纵线征";家系Ⅱ经基因检测证实为SCA1,先证者、先证者姑姑、先证者表弟的CAG重复数目分别为60、51、52,磁共振显示小脑明显萎缩。结论 SCA亚型临床表现相似,仅靠临床症状和影像学检查难以确诊,最终诊断需依赖于基因检测。

Objective To analyze the clinical manifestation, imaging characteristics, genotype and the relationship between them in two pedigrees of spinocerebellar ataxia. Methods The clinical manifestations of some persons of two pedigrees were recorded and summarized, while their MRI imagings and gene analysis with 2ml peripheral blood were performed. Results Pedigree 1 was certified as spinocerebellar ataxia 2 （SCA2） throuth gene analysis,the CAG repeats of the proband,proband＇ s mother and prohand＇ s brother were 44,36 and 38. The MRI revealed brainstem and cerebellar atrophy, and ＂cross sign＂ or ＂ordinate sign＂ of pons. Pedigree 2 was certified as SCA1 ,the CAG repeats of the proband,proband＇ s aunt and prohand＇ s cousin were 60,51 and 52. The MRI revealed cerebellar atrophy. Conclusions It is difficult to diagnosis the subset of SCA only on the clinical manifestation and imaging characteristicS. The final diagnosis depends on gene analysis.