Hereditary spastic paraplegia 15
Hereditary spastic paraplegia 15
Definition
Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
Also known as autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26, autosomal recessive spastic paraplegia type 15, hereditary spastic paraparesis type 15, hereditary spastic paraplegia 15, hereditary spastic paraplegia type 15, Kjellin syndrome, spastic paraplegia and retinal degeneration, spastic paraplegia-retinal degeneration syndrome, SPG15, ZFYVE26 autosomal recessive complex spastic paraplegia — per MONDO