Hereditary spastic paraplegia 48

Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.

Also known as: AP5Z1 hereditary spastic paraplegia, SPG48, autosomal recessive spastic paraplegia type 48, hereditary spastic paraplegia caused by mutation in AP5Z1, hereditary spastic paraplegia type 48, spastic paraplegia 48, autosomal recessive

2 clinical trials for this condition and its sub-types, 0 tagged with Hereditary spastic paraplegia 48 itself.