The Research Of Clinical Features And Gene Mutation Of Five Families With Spinocerebellar Ataxia In Shangdong

Objective1 .To detect the characteristics of clinical features in Shandong pedigrees with SCA.2. To make the molecular genetic diagnoses for patients and presymp-tomatic relatives of families in Shandong SCA.3. Screening the genetic, to make the diagnosis in patients with symptoms before.MethodsIn this study, all five family were found in Jinan Fourth People's Hospital neurology clinic. The first cards of five families were Was diagnosed with SCA through the first clinical manifestations, imaging features, clinical diagnosis, such as family history . The blood samples were obtained through the follow-up,and the DNA samples were obtained through Phenol/chloride method.The SCA gene were Amplified through polymerase chain reaction method and the PCR products were detected through agarose gel electrophoresis method. Finally, we carried out the purification of DNA, sequencing, and detected the form of mutations.Results1.Clinical manifestations:The first symptoms are ataxia, walking instability, Blasting pronunciation,Cone-beam damage,etc. Anticipation is obvious.(1) The patients of SCA3 were clinically characterized by progressive ataxia and Cone-beam damage. The magnetic resonance imaging found the atrophy of cerebellum .(2) The patients of SCA7 were clinically characterized by progressive ataxia and Visual impairment. The magnetic resonance imaging found the atrophy of cerebellum and brainstem.2. Family investigation and genetic testing results:Our study found one SCA3 family and two SCA7 family. The CAG repeat of SCA3 allele expanded 68 repeats and the CAG repeat of SCA7 allele expanded 42 repeats. ConclusionThe characteristics of clinicla features and imaging performance are very important for SCA3 diagnosis. The geneticysis can be used as diagnostic criteria. The detection of CAG repeat number is important for determining the gene mutation in SCA patients and Can be used to screen the patients. The study prompte that The majority of SCA is SCA3 and SCA7 in Shandong region. Two families did not detected SCA1, SCA2, SCA3, SCA7 gene mutation.This case Show that the SCA has a complex genetic heterogeneity.