Clinical And Gene Diagnosis Of Spinocerebellar Ataxia Type3

ObjetiveTo explore the clinical characteristics and gene diagnosis method of SCA3,to try to find the gene diagnostic procedure of SCAs.MethodTo extract the DNA of SCA patients and families numbers without abnormal presentations from two SCA families.The gene mutations were analyzed by polymerase chain reaction(PCR) on the basis of SCA1,SCA2,SCA3,SCA7 primer.Retrieval the abnormal gene strap according to agarose gel electrophoresis result.The tecnology of TA colone was applied to count the CAG-repeats and was compared with the controls.ResultA total of 10 SCA patients and 1 presymptomatic individuals were detected among 22 numbers of 4 generations from 2 SCA families.Male and female were affected, the average onset of the disease of the first SCA familie was around 34 years old and 48 years of the second SCA familie. The clinical features of spinocerebellar ataxias include ataxa, dysarthria,sensory disturbence。Their CAG repeat numbers expanded from 50～63. No(CAG)n mutation of SCA1,SCA2,SCA7,SCA6,SCA12,SCA17were detected.ConclusionsSCA3 is an autosomal dominant genetic diseas.and is the usually one among SCA.It is late-onset, progressive neurodegenerative, and movement disorders. The clinical features of the spinocerebellar ataxia include ataxa, dysarthria, dysmetria et al. The gene diagnosis can be used as diagnostic criteria and the detection of repeats times of CAG can provide an effective way for the genetic and presymptomatic diagnosis.