Details of Disease

General Information of Disease (ID: DISCANV9)

• Disease Name: Hereditary spastic paraplegia 46
• Synonyms: spastic paraplegia 46, autosomal recessive; hereditary spastic paraplegia type 46; GBA2 autosomal recessive complex spastic paraplegia; SPG46; autosomal recessive complex spastic paraplegia caused by mutation in GBA2; hereditary spastic paraplegia 46; autosomal recessive spastic paraplegia 46; autosomal recessive spastic paraplegia type 46
• 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.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISCANV9: Hereditary spastic paraplegia 46
• Disease Identifiers:
  MONDO ID: MONDO_0013737
  UMLS CUI: C2828721
  OMIM ID: 614409
  MedGen ID: 473687
  Orphanet ID: 320391
  SNOMED CT ID: 723822009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GBA2	OTOZXG5D	Strong	Autosomal recessive	[1]

References

• [1] Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet. 2013 Feb 7;92(2):238-44. doi: 10.1016/j.ajhg.2012.11.021. Epub 2013 Jan 17.