脊髓小脑性共济失调2两家系致病基因及临床特点OACSTPCD

Objective To analyze the pathogenic genes and clinical characteristics of spinocerebellar ataxias(SCAs)in two pedigrees in Luoyang.Methods Clinical data of the proband and pedigree members were collected.After peripheral venous blood DNA was extracted,polymerase chain reaction(PCR)and agarose gel electrophoresis were used to screen SCA1,2,3,6,7,12,17 and DRPLA subtypes in the two probands.Sanger sequencing was performed on the target subtypes after the preliminary determination of the subtypes.After confirmation,other members of the pedigree were verified.Results The probands of family 1 and family 2 were all subtype SCA2,and the repeat times of CAG in pathogenic allele were 44 and 38,respectively.The subsequent family verification showed that there were 3 pathogenic gene carriers in pedigree 1 and 1 pathogenic gene carrier in pedigree 2.All the probands had walking instability as the main symptom,and some of them had slurred speech and memory deterioration.Conclusion Two SCA2 pedigrees in Luoyang were diagnosed by combined PCR and Sanger sequencing.Familial walking instability is the main clinical feature.