Spinocerebellar ataxia type 1 (SCA 1)

Evidence-based neurology checklist on spinocerebellar ataxia type 1 (sca 1): Genetics This is caused by mutations in the ataxin 1 (ATXN1) gene on chromosome 6p It is a CAG trinucleotide repeat expansion disease > 39 repeats are pathogenic Juvenile onset occurs with > 70 repeats The transmission is…

Genetics

  • This is caused by mutations in the ataxin 1 (ATXN1) gene on chromosome 6p
  • It is a CAG trinucleotide repeat expansion disease
  • > 39 repeats are pathogenic
  • Juvenile onset occurs with > 70 repeats
  • The transmission is autosomal dominant
  • Onset age is in the fourth decade

Central features

Dystonic features

Peripheral features

Pathology

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. Zoghbi HY, Orr HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem 2009; 284:7425-7429. 
  3. Khwaja GA, Srivastava A, Ghuge VV, Chaudhry N. Writer's cramp in spinocerebellar ataxia Type 1. J Neurosci Rural Pract 2016; 7:584-586.
  4. Bürk K, Abele M, Fetter M, et al. Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996; 119:1497-1505.
  5. Namekawa M, Honda J, Shimazaki H. "Hot cross bun" sign associated with SCA1. Intern Med 2015; 54:859-860.
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