Spinocerebellar ataxia type 29 (SCA29)

Evidence-based neurology checklist on spinocerebellar ataxia type 29 (sca29): 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…

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

Magnetic resonance imaging (MRI) brain

Synonym

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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