摘要目的 对1个脊髓小脑共济失调3型(spinocerebellar ataxia 3,SCA3)伴多囊肾病(polycystic kidney disease,PKD)家系的临床特征和致病基因突变进行研究.方法 应用PCR扩增、DNA测序等技术分析该家系成员SCA3基因第10外显子,PKD1、PKD2基因所有外显子及其邻近DNA系列片段,同时分析该家系患者的临床特征.结果 先证者SCA3基因CAG重复次数为28/76,一个等位基因的重复次数在全突变范围,其PKD1基因第23外显子发现序列异常.先证者临床症状严重,表现为严重的共济失调、锥体束征、Meige综合征、抑郁症和高血压.结论 遗传性脊髓小脑共济失调3型和常染色体显性多囊肾病可同时发生在一个家系,基因检测是主要的确诊手段.

abstractsObjective To investigate clinical features and genetic mutations of a family affected with spinocerebellar ataxia 3 and polycystic kidney disease.Methods Polymerase chain reaction and DNA sequencing were employed to analyze exon 10 of the SCA3 gene,in addition with all exons and flanking sequences of PKD1 and PKD2 genes.The clinical features were also carefully analyzed.Results The numbers of CAG repeat in the proband's SCA3 gene were 28/76,with the number of repeats in the mutant allele being in the full range.The sequence of exon 23 of the PKD1 gene was also found to be abnormal.Clinical symptoms of the proband were very serious,which were characterized by obvious ataxia,pyramidal signs,Meige syndrome,depression and high blood pressure.Conclusion Hereditary spinocerebellar ataxia 3 and autonomic dominant polycystic kidney disease may co-occur,and genetic testing is the primary means of diagnosis.