The Clinical Feature, Neuroimaging Feature And Genotyping Of Five Pedigrees With Spinocerebellar Ataxia In Shandong

Objective1.To detect the characteristics of the clinical features and the MRI features in Shandong pedigrees with SCAs.2. To make the molecular genetic diagnosis for the patients and the presymptomatic relatives of pedigrees in Shandong SCAs.3.To study the frequency of SCA's CAG trinucleolide repeat expansion (CAG)n among the five families and investigate the relationship between the clinical symptom,age of onset and the CAG trinucleolide repeat expansion.4.To analysis the relationship between clinical symptom,imaging characteristic and genotying.5. To make the presymptomatic diagnosis with the'healthy'person in the pedigrees with SCAs.MethodsClinical and neurological examinations were performed in five pedigrees (18 patiens,five related members and seven common members).Molecular genetic diagnosis were made on the patiens,the common members and the 'healthy'individual form the families.The trinucleotide repeat mutations were detected by polymerase chain reaction (PCR),the products of PCR were detected through agarose gel electrophoresis method. we carried out the purification of DNA,sequenced,and detected the form of mutations.ResultsProgressive ataxia and dysarthria were the important clinical features in the Shandong of SCAs.Cone-beam damage often followed the patiens of SCA3.Visual impairment often followed the patiens of SCA7.The magnetic resonance imaging (MRI) of SCAs were found the atrophy of cerebellum and the atrophy of brainstem. The MRI of SCA3 were found the atrophy of cerebellum,and the MRI of SCA7 were found the atrophy of cerebellum and brainstem. Among the 18 patiens,four SCA3,nine SCA7,five couldn't been identified. We couldn't find the presymptomatic individual. The CAG repeat of SCA3 allele expanded 65～74 repeats(normal controls 14～37)and the CAG repeat of SCA7 allele expanded 40～52 repeats(normal controls 7～35). The SCA3 and SCA7 had onset age anticipation.ConclusionThe majority of SCAs is SCA3, SCA7 is very common in Shandong.The characteristics of clinicla features and MRI scan are very important clues for SCAs diagnosis,but the molecular genetic analysis is more accurate and can be used as diagnostic criteria and presymptomatic diagnosis.