hereditary spastic paraplegia 46
A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
GBA2 autosomal recessive complex spastic paraplegia
exact
SPG46
exact
autosomal recessive complex spastic paraplegia caused by mutation in GBA2
exact
autosomal recessive spastic paraplegia type 46
exact
hereditary spastic paraplegia 46
exact
hereditary spastic paraplegia type 46
exact
spastic paraplegia 46, autosomal recessive
related