Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

摘要

Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane. We have identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous Norwegian family with ARHSP. This is the first description of this disorder in the Norwegian population and, apart from mild ptosis in two siblings, the phenotype was essentially pure and late in onset.