Study on the gene mutation of spinocerebellar ataxia types 1～3 in patients with primary dystonia / 临床神经病学杂志

Objective To study the gene mutation of the spinocerebellar ataxia(SCA) types 1～3 in the patients with primary dystonia.Methods The CAG triplet repeat expansion of SCA1～3 were detected with the polymerase chain reaction(PCR) in two patients with primary dystonia(father and son) and their 21 health family members.Results The two patients with primary dystonia were found to have the gene mutation of SCA3,the CAG repeat were 80 and 75 respectively.The gene mutations of SCA1,2 were not found in the two patients.The gene mutation of SCA1～3 were not found in the 21 family members.Conclusions The patients with primary dystonia have the gene mutation of SCA3.The gene mutations of SCA3 may be relatived to the incidence of primary dystonia.