Three Novel Mutations of the Spastin Gene in Chinese Patients With Hereditary Spastic Paraplegia

Abstract

To our knowledge, this is the first report of SPG4 mutations in the People's Republic of China. The percentage of involved Chinese families with autosomal dominant hereditary spastic paraplegia with an SPG4 mutation is 18% (4/22), lower than the estimated 40% linked to this locus.