Hereditary Spastic Paraplegia With Thin Corpus Callosum In A Family Clinical Features And Gene Mutation Analysis

Objective：The polymerase chain reaction (PCR)technique of hereditary spastic paraplegiawith a thin corpus callosum and DNA sequence analysis method for the detection of6cases in the family of SPG1, SPG11, SPG15, SPG18, SPG21, mutation of SPG47gene,To explore the clinical characteristics of pedigrees and its relationship withmutations in these genes.Methods：A comprehensive clinical examination was performed on the family,summarizing all patients clinical characteristics, and the application of polymerasechain reaction (PCR) technique combined with DNA sequence analysis method, todetect the mutation in this family the6gene.Results:Not found in SPG1, SPG11, SPG15, SPG18, SPG21, SPG47gene mutation;gene polymorphism has been found on a verification of the SPG15(C.5672A>GP.N1810S); two new gene polymorphism was found on SPG1(C.1267C>G P.Q423E,C.2331T>G P.Y810D)Conelusion:The patients in this pedigree with SPG-TCC clinical manifestations, typical isnot SPG1, SPG11, SPG15, SPG18, SPG21, SPG47gene exon mutation.We need tocontinue screening other genes; Detection of1previously validated genepolymorphism of c.5672A>G p.N1891S and two of the newly discoveredpolymorphism(C.1267C>G P.Q423E and C.2331T>G P.Y810D) in6candidate genes;The family were not only has the clinical symptoms and signs of SPG-TCC typical,but also accompanied by significant hair loss characteristics.