摘要
目的了解安徽地区遗传性脊髓小脑性共济失调1型(SCA1)患者的临床特征。方法收集安徽地区SCA患者及其家系成员的临床资料及基因组DNA标本,应用PCR-变性聚丙烯酰胺凝胶电泳结合克隆测序等技术检测其基因型,分析SCA1基因型的临床特征。结果经基因诊断证实,在临床诊断的59例安徽地区SCA患者(15个家系39例患者和20例散发患者)中有7例为SCA1患者。7例患者均具有小脑性共济失调、构音障碍、腱反射亢进、Romberg征阳性等症状和体征,并伴有智能障碍(4/7)和末稍感觉减退(2/7)等症状,无视力减退、舞蹈样动作等症状。头颅MRI扫描可见小脑脑沟增宽、增深,蚓部萎缩,脑干周围脑池扩大,大脑皮质萎缩。2例诱发电位检查BAEP异常,1例EMG检查结果提示神经源性病变。所有患者肝功能、血脂、血清铜、铜氧化酶、铜蓝蛋白检查均在正常范围。结论SCA1患者除具有小脑性共济失调共有的症状和体征外,智能减退、脑干和大脑皮质明显萎缩也是其特征性表现,这为临床筛选SCA1亚型的患者行基因诊断提供了依据。
Objective To study the clinical features of the patients with hereditary spinocerebellar ataxia type 1（SCA1） in Anhui region.Methods The clinical data and the genomic DNA samples of these SCA patients and their family members from Anhui region were collected,their genotypes were analyzed by PCR-denaturing polyacrylamide gel electrophoresis and cloning sequencing,and their clinical features were also analyzed.Results There were 59 patients from Anhui region who were diagnosed as SCA in the study,of which 39 cases came from 15 families and 20 cases were sporadic.7 SCA1 patients were detected and confirmed by gene diagnosis,who showed symptoms and signs such as cerebellar ataxia,dysarthria,tendon hyperreflexia,Romberg＇s signs and so on.4 cases（4/7） had mental retardation and 2 cases（2/7） had peripheral sensory loss.None of them had symptoms and signs such as vision loss chorea and so on.The results of cranial MRI scan of these 7 patients showed cerebellar sulci widened,vermis atrophy,the pool around the brain stem expanded and cerebral cortex atrophy.2 cases were with abnormal BAEP by evoked potential and 1 case was with neurogenic lesions by EMG.All patients were with normal liver function,blood lipids,serum copper,copper oxidase and ceruloplasmin.Conclusion Except for the common symptoms and signs for all patients with cerebellar ataxia,mental retardation,brain stem and cerebral cortex atrophy are the clinical features for patients with SCA1,which provides the basis for the patients diagnosed with cerebellar ataxia to be screened for SCA1 gene subtype.
出处
《安徽医学》
2012年第4期388-390,共3页
Anhui Medical Journal
基金
安徽省高等学校自然科学研究项目(编号:KJ2007B363ZC)
