Details of Disease

General Information of Disease (ID: DIS7P7EV)

• Disease Name: Autosomal recessive spinocerebellar ataxia 18
• Synonyms: autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency; spinocerebellar ataxia, autosomal recessive 18; autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2; autosomal recessive spinocerebellar ataxia type 18; GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome; GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome; spinocerebellar ataxia, autosomal recessive type 18; autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency; autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2; SCAR18
• Definition: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.
• Disease Hierarchy:
  DISBKE7T: Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
  DIS7P7EV: Autosomal recessive spinocerebellar ataxia 18
• Disease Identifiers:
  MONDO ID: MONDO_0014530
  UMLS CUI: C4015505
  OMIM ID: 616204
  MedGen ID: 863942
  Orphanet ID: 363432

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
GRID2	OTJ3R10R	Strong	Autosomal recessive	[1]

References

• [1] Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology. 2013 Oct 15;81(16):1378-86. doi: 10.1212/WNL.0b013e3182a841a3. Epub 2013 Sep 27.