【摘 要】
：
目的：对一个中国地区常染色体隐性遗传性痉挛性共济失调(Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay,ARSACS)患者的临床表型和基因突变进行详尽报道.材料与方法：收集了一个以慢性进行性周围神经病为主要临床特点的12岁女性散发病例,完成了临床症状、体征、头颅+脊髓MRI、神经电生理等资料的收集；在签署知情同意书后,抽取患者及父母
【机 构】
：
中南大学湘雅三医院神经内科 湖南长沙410013 中南大学湘雅医院神经内科 湖南长沙410008;
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目的：对一个中国地区常染色体隐性遗传性痉挛性共济失调(Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay,ARSACS)患者的临床表型和基因突变进行详尽报道.材料与方法：收集了一个以慢性进行性周围神经病为主要临床特点的12岁女性散发病例,完成了临床症状、体征、头颅+脊髓MRI、神经电生理等资料的收集；在签署知情同意书后,抽取患者及父母的静脉血10ml,常规氯仿法提取gDNA,运用外显子组测序(WES)和单倍体分析明确患者的致病基因.结果：患者的临床特点为6岁隐匿起病,缓慢进展,临床表现为进行性周围神经病合并锥体束征阳性和轻微的指鼻试验欠准确,MRI示小脑及脊髓萎缩、脑桥基底部等T1短T2信号.外显子组测序发现患者携带SACS基因纯合无义突变(c.11803C＞T,p.GIn3935X).结合临床和基因诊断结果,患者明确诊断为常染色体隐性遗传性痉挛性共济失调ARSACS患者；对家系内成员进行共分离分析,发现患者父亲携带该杂合突变,患者母亲正常.进一步对患者进行单倍体分析,发现患者13号染色体2Mb区域包括SACS基因在内为父源的单亲二倍体.
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