Research Of Clinical Features And Gene Mutation Of Patients With Spinocerebellar Ataxia Type 3 In Three Families

Objective: To detect the clinical features of patients of Spinocercbellar ataxia type 3 (SCA3/MJD),we knowed its clinical characteristics detailedly.Through molecular genetic analysis,we investigated the relationship between the clinical features and the gene mutations. Methods: Clinical and related examinations were performed in three pedigrees from Xinjiang (46 members including 10 patients). Molecular genetic diagnosis was made on the patients and healthy individuals from the families. The trinucleotide repeat mutations were detected by polymerase chain reaction (PCR), fluorescence-PCR and related techniques in 75 members including 10 patients ,43 relatives, and 60 normal controls without family SCA history. Results: The patients of SCA3 were clinically characterized by progressive ataxia and dysarthria.The magnetic resonance imaging found the atrophy of cerebellum. Among the 46 members, we found six SCA3/MJD. The CAG repeats of SCA3 allele expanded from 68-75(normal controls 12-34 repeats). With four presymptomatic individuals, the CAG repeats of SCA3 allele expanded from 69-73. Conclusion: The characteristics of clinicla features and MRI scan are very important clues for SCA3 diagnosis, but the molecular genetic analysis is more accurate and can be used as diagnostic criteria.