Spinocerebellar ataxia type 2 (SCA2)

Evidence-based neurology checklist on spinocerebellar ataxia type 2 (sca2): Genetics This is caused by mutations in the ataxin 2 (ATXN2) gene on chromosome 12 It is a polyQ CAG repeat disorder The normal repeat number is between 15-24 >35 repeats are pathogenic but a case with 31 repeats has been…

Genetics

  • This is caused by mutations in the ataxin 2 (ATXN2) gene on chromosome 12
  • It is a polyQ CAG repeat disorder
  • The normal repeat number is between 15-24
  • >35 repeats are pathogenic but a case with 31 repeats has been reported
  • The transmission is autosomal dominant
  • Onset is in the third to fourth decades

Ataxic features

Other movement disorders

Peripheral nerve features

Magnetic resonance imaging (MRI) brain

References

  1. Whaley NR, Fujioka S, Wszolek ZK. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis 2011; 6:33.
  2. Spadaro M, Giunti P, Lulli P, et al. HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds. Acta Neurol Scand 1992; 85:257-265.
  3. Ueyama H, Kumamoto T, Nagao S, Mita S, Uchino M, Tsuda T. Clinical and genetic studies of spinocerebellar ataxia type 2 in Japanese kindreds. Acta Neurol Scand 1998; 98:427-432.
  4. Kim JS, Kim JS, Youn J, et al. Ocular motor characteristics of different subtypes of spinocerebellar ataxia: distinguishing features. Mov Disord 2013; 28:1271-1277.
  5. Tojima M, Murakami G, Hikawa R, et al. Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia. Neurol Genet 2018; 4:e283. 
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