Spinocerebellar ataxia type 1 (SCA 1)

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

Spinocerebellar ataxia type 1 (SCA 1). This is caused by mutations in the ataxin 1 (ATXN1) gene on chromosome 6p. Fully referenced neurology checklist.

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

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Dystonic features

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Peripheral features

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Pathology

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Magnetic resonance imaging (MRI) brain

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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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