Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 30
Definition
Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
Also known as autosomal spastic paraplegia type 30, hereditary spastic paraplegia caused by mutation in KIF1A, hereditary spastic paraplegia type 30, KIF1A hereditary spastic paraplegia, spastic paraplegia 30, autosomal dominant, SPG30 — per MONDO