/hereditary spastic paraplegia 48

hereditary spastic paraplegia 48

Rare Disease

MONDO:0013342

Also Known As

AP5Z1 hereditary spastic paraplegiaSPG48autosomal recessive spastic paraplegia 48autosomal recessive spastic paraplegia type 48hereditary spastic paraplegia caused by mutation in AP5Z1hereditary spastic paraplegia type 48spastic paraplegia 48, autosomal recessive

Definition

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.