Spinocerebellar ataxia type 16 (SCA16)

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

Spinocerebellar ataxia type 16 (SCA16). This is usually caused by mutations in the ITPR1 gene. Fully referenced neurology checklist.

Genetics

  • This is usually caused by mutations in the ITPR1 gene
  • This is on chromosomes 3p and 8q
  • The transmission is autosomal dominant
  • It is also caused by mutations in CNTN4 and SUMF1
  • It is probably the same as SCA15
  • The onset age is 20–66 years

Clinical features

Locked: subscribe to see this section.

Magnetic resonance imaging (MRI) brain

Locked: subscribe to see this section.

References

  1. Iwaki A, Kawano Y, Miura S, et al. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. J Med Genet 2008; 45:32-35.
  2. Miyoshi Y, Yamada T, Tanimura M, et al. A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1. Neurology 2001; 57:96-100.
  3. Miura S, Shibata H, Furuya H, et al. The contactin 4 gene locus at 3p26 is a candidate gene of SCA16. Neurology 2006; 67:1236-1241.

Related checklists

Loading...