/hereditary spastic paraplegia 15

hereditary spastic paraplegia 15

Rare Disease

MONDO:0010044

Also Known As

Kjellin syndromeSPG15ZFYVE26 autosomal recessive complex spastic paraplegiaautosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26autosomal recessive spastic paraplegia 15autosomal recessive spastic paraplegia type 15hereditary spastic paraparesis type 15hereditary spastic paraplegia 15hereditary spastic paraplegia type 15spastic paraplegia and retinal degenerationspastic paraplegia-retinal degeneration syndromerecessive spastic paraplegia with retinal degenerationspastic paraplegia 15spastic paraplegia 15, autosomal recessivespastic paraplegia and retinal Degeneration

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.