Autosomal recessive cerebellar ataxia with STUB1 mutations

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

Autosomal recessive cerebellar ataxia with STUB1 mutations. This is caused by mutations in the STUB1 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the STUB1 gene
  • The gene encodes CHIP: this is a ubiquitin ligase
  • The presentation is in adulthood: usually in the mid-20s

Clinical features

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Magnetic resonance imaging (MRI) brain

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References

  1. Depondt C, Donatello S, Simonis N, et al. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology 2014; 82:1749-1750.
  2. Synofzik M, Schüle R, Schulze M, et al. Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet J Rare Dis 2014; 9:57.
  3. Shi CH, Schisler JC, Rubel CE, et al. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet 2014; 23:1013-1024. 

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