Details of Disease

General Information of Disease (ID: DIS08CCQ)

• Disease Name: Autosomal recessive cerebellar ataxia with late-onset spasticity
• Synonyms: autosomal recessive cerebellar ataxia due to GBA2 deficiency
• Definition: Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.
• Disease Hierarchy:
  DISEC08E: Sphingolipidosis
  DISZF45C: Autosomal recessive metabolic cerebellar ataxia
  DIS08CCQ: Autosomal recessive cerebellar ataxia with late-onset spasticity
• Disease Identifiers:
  MONDO ID: MONDO_0018129
  UMLS CUI: C4706412
  MedGen ID: 1635411
  Orphanet ID: 352641
  SNOMED CT ID: 763348005

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	Supportive	Autosomal recessive	[1]

References

• [1] Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet. 2013 Feb 7;92(2):245-51. doi: 10.1016/j.ajhg.2012.12.012. Epub 2013 Jan 17.