Spinocerebellar ataxia type 16 (SCA16)

Evidence-based neurology checklist on spinocerebellar ataxia type 16 (sca16): 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…

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

Magnetic resonance imaging (MRI) brain

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.

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