spastic paraplegia type-7

Genetics: 1) autosomal recessive 2) associated with paraplegin mutations See hereditary spastic paraplegia

References

- Casari G et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-83, 1998 PMID: 9635427