Details of Disease

General Information of Disease (ID: DISYKOVU)

• Disease Name: Autosomal recessive spinocerebellar ataxia 14
• Synonyms: cerebellar ataxia, autosomal recessive, spectrin-associated, 1; spectrin-associated autosomal recessive cerebellar ataxia; spinocerebellar ataxia, autosomal recessive 14; spectrin-associated autosomal recessive cerebellar ataxia type 1; SPARCA1; Ataxie spinocrbelleuse dbut infantile avec retard psychomoteur; autosomal recessive cerebellar ataxia-cognitive defect syndrome; autosomal recessive spinocerebellar ataxia type 14; autosomal recessive cerebellar ataxia caused by mutation in SPTBN2; SCAR14; spinocerebellar ataxia, autosomal recessive type 14; infantile-onset spinocerebellar ataxia-psychomotor delay syndrome; SPARCA; SPTBN2 autosomal recessive cerebellar ataxia
• Definition: Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).
• Disease Hierarchy:
  DISWBOUC: Autosomal recessive cerebellar ataxia
  DISYKOVU: Autosomal recessive spinocerebellar ataxia 14
• Disease Identifiers:
  MONDO ID: MONDO_0014159
  UMLS CUI: C4706415
  OMIM ID: 615386
  MedGen ID: 1636182
  Orphanet ID: 352403
  SNOMED CT ID: 763351003

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
SPTBN2	OTDMJ75N	Strong	Autosomal recessive	[1]

References

• [1] Recessive mutations in SPTBN2 implicate -III spectrin in both cognitive and motor development. PLoS Genet. 2012;8(12):e1003074. doi: 10.1371/journal.pgen.1003074. Epub 2012 Dec 6.