Xinjiang Uygur Spinal Cord Cerebellar Ataxia12Subtypes (SCA12) In Patients With Serum α-synuclein Expression Level Of The Research

Objective:Discusses xinjiang uygur with Parkinson’s symptoms of hereditary cerebellar ataxia type12type of spinal cord in plasma is associated with abnormal nucleoprotein gathered alpha-synapses, its pathogenesis is similar to the pathogenesis of Parkinson’s disease, is caused by abnormal gathered for it.Methods:Collected according to the standard, Harding, a Uighur family, clinical diagnosis of patients with spinal cord cerebellar ataxia16people, family symptoms before5,28normal plasma alpha-synuclein ELISA method to extract. The family before this topic have been confirmed as the SCA12, the application of polymerase chain reaction, agarose gel electrophoresis, T carrier cloning of recombinant DNA technology and combined with direct sequencing technologies such as confirmed, the and its pathogenic gene the CAG trinucleotide pathological repetitions mutation analysis, to SARA rating scale in patients with ataxia of illness severity. Results:(1) Patients with symptoms before the group and normal control group, three groups of alpha-synuclein is not identical expression levels (P <0.05),a group of patients with SCA12concentration has the highest overall average.But SCA12patients age, disease course and no correlation between alpha-synuclein concentration.(2)Three groups of sequences of the CAG repeat number not completely the same(P<0.05), group of patients with SCA12and a group of patients with symptoms before,Patient group and normal control group sequences of the CAG repeat the statistically significant differences,normal control group number sequence of the CAG repeat overall average at least,There are no relationship between SCA12patients age, disease course and the sequence of the CAG repeat number.(3)SCA12patients course relationship with SARA score was a positive correlation between two variables.SNA12 the longer the course of the disease, patients with SARA score is higher, the more serious the ataxia patients condition.Conclusion:SCA12patients have abnormal alpha-synuclein aggregation, may be involved in the pathogenesis of SCA12. The CAG patients with SCA12sequence high repetitions; The longer the SCA12course, SARA score higher...