/hereditary spastic paraplegia 46

hereditary spastic paraplegia 46

Rare Disease

MONDO:0013737

Also Known As

GBA2 autosomal recessive complex spastic paraplegiaSPG46autosomal recessive complex spastic paraplegia caused by mutation in GBA2autosomal recessive spastic paraplegia 46autosomal recessive spastic paraplegia type 46hereditary spastic paraplegia 46hereditary spastic paraplegia type 46spastic paraplegia 46, autosomal recessive

Definition

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.