Hereditary spastic paraplegia 10
Hereditary spastic paraplegia 10
Definition
Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.
Also known as autosomal dominant spastic paraplegia type 10, hereditary spastic paraplegia caused by mutation in KIF5A, hereditary spastic paraplegia type 10, KIF5A hereditary spastic paraplegia, SPG10 — per MONDO