Spinocerebellar ataxia type 23 (SCA23)

Evidence-based neurology checklist on spinocerebellar ataxia type 23 (sca23): Genetics and pathology This is caused by mutations in the prodynorphin (PYDN) gene mutation The gene is on chromosome 20p The mutation has a neurodegenerative or toxic effect It causes widespread pontocerebellar and…

Genetics and pathology

  • This is caused by mutations in the prodynorphin (PYDN) gene mutation
  • The gene is on chromosome 20p
  • The mutation has a neurodegenerative or toxic effect
  • It causes widespread pontocerebellar and spinal cord atrophy
  • The onset age is 43-56 years

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Verbeek DS. Spinocerebellar ataxia type 23: a genetic update. Cerebellum 2009; 8:104-107. 
  2. Bakalkin G, Watanabe H, Jezierska J, et al. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am J Hum Genet 2010; 87:593-603.Bhidayasiri R, Waters MF, Giza CC. Neurological differential diagnosis. A Prioritized Approach. Blackwell Publishing Massachusetts 2005 p206-207.
  3. Fawcett K, Mehrabian M, Liu YT, et al. The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol 2013; 260:856-859. 
  4. 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.

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