Spinocerebellar ataxia type 29 (SCA29)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinocerebellar ataxia type 29 (SCA29). This is caused by mutations in the ITPR1 gene on chromosome 3p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the ITPR1 gene on chromosome 3p
  • The gene product modulates intracellular calcium signaling
  • The transmission is autosomal dominant
  • It overlaps with the locus for SCA 15

Clinical features

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Magnetic resonance imaging (MRI) brain

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Synonym

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References

  1. Huang L, Chardon JW, Carter MT, et al. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. Orphanet J Rare Dis 2012; 7:67. 
  2. Dudding TE, Friend K, Schofield PW, Lee S, Wilkinson IA, Richards RI. Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Neurology 2004; 63:2288-2292.
  3. Hirota J, Ando H, Hamada K, Mikoshiba K. Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1. Biochem J 2003; 372:435-441.

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