Spinocerebellar ataxia type 15 (SCA15)

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

Spinocerebellar ataxia type 15 (SCA15). This is caused by mutations in the Inositol 1,4,5- triphosphate receptor 1 (ITPR1) gene. This is on chromosome 3p.

Genetics

  • This is caused by mutations in the Inositol 1,4,5- triphosphate receptor 1 (ITPR1) gene
  • This is on chromosome 3p
  • It is probably the same as SCA16
  • The mean onset age is 35 years

Clinical features

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Magnetic resonance imaging (MRI) brain: features

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References

  1. Tipton PW, Guthrie K, Strongosky A, Reimer R, Wszolek ZK. Spinocerebellar ataxia 15: A phenotypic review and expansion. Neurol Neurochir Pol 2017; 51:86-91.
  2. Marelli C, van de Leemput J, Johnson JO, et al. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch Neurol 2011; 68:637-643.
  3. Di Gregorio E, Orsi L, Godani M, et al. Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15. Cerebellum 2010; 9:115-123.
  4. Castrioto A, Prontera P, Di Gregorio E, et al. A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline. Eur J Neurol 2011; 18:1263-1265. 
  5. Novak MJ, Sweeney MG, Li A, et al. An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description. Mov Disord 2010; 25:2176-2182. 

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