Details of Disease

General Information of Disease (ID: DISEYHEV)

• Disease Name: Autosomal recessive spinocerebellar ataxia 2
• Synonyms: cerebellar granular cell hypoplasia and intellectual disability, congenital; spinocerebellar ataxia, autosomal recessive 2; CPD3; cerebelloparenchymal disorder 3; CPD 3; autosomal recessive cerebelloparenchymal disorder type 3; cerebellar granular cell hypoplasia and mental retardation, congenital; cerebellar hypoplasia, nonprogressive Norman type; CPDIII; autosomal recessive spinocerebellar ataxia type 2; PMPCA autosomal recessive congenital cerebellar ataxia; autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA; SCAR2
• Definition: The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.
• Disease Hierarchy:
  DISIQCS1: Autosomal recessive congenital cerebellar ataxia
  DISEYHEV: Autosomal recessive spinocerebellar ataxia 2
• Disease Identifiers:
  MONDO ID: MONDO_0008943
  MESH ID: C565865
  UMLS CUI: C1859298
  OMIM ID: 213200
  MedGen ID: 349134
  Orphanet ID: 1170
  SNOMED CT ID: 715369006

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
PMPCA	OT5X1G9Q	Strong	Autosomal recessive	[1]

References

• [1] PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25.