Clinical Features And Mutation Analysis Of The Spastin Gene In A Hereditary Spastic Paraplegia Family

Objective:To explore the clinical features and identify mutations of the spastin gene in a big Chinese family with autosomal dominant hereditary spastic paraplegia (AD-HSP or AD-SPG), in order to reveal the pathogenesis of hereditary spastic paraplegia by mutation analysis.Methods:14 cases from affected members of the AD-SPG family were assessed according to their clinical features. Genomic DNA of the proband was used for mutant analysis of the spastin gene by PCR and DNA sequence analysis.Results:Patients of the family have typical clinical manifestations of pure (uncomplicated) SPG. There was no mutation found in the 17 exons of the spastin gene by the technique of PCR and DNA sequence analysis.Conclusion:Patients of the AD-SPG family have typical clinical manifestations of SPG. There is no mutation in the spastin gene of the family.