Hereditary spastic paraplegia 6
Hereditary spastic paraplegia 6
Definition
Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
Also known as autosomal dominant spastic paraplegia type 6, FSP3, hereditary spastic paraplegia caused by mutation in NIPA1, hereditary spastic paraplegia type 6, NIPA1 hereditary spastic paraplegia, SPG6 — per MONDO