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.
MONDO:0002561
lysosomal storage disease
is_a
MONDO:0019064
hereditary spastic paraplegia
is_a
AP5Z1 hereditary spastic paraplegia
exact
SPG48
exact
autosomal recessive spastic paraplegia type 48
exact
hereditary spastic paraplegia caused by mutation in AP5Z1
exact
hereditary spastic paraplegia type 48
exact
spastic paraplegia 48, autosomal recessive
related