Spinocerebellar ataxia type 47 (SCA47)

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

Spinocerebellar ataxia type 47 (SCA47). This is caused by mutations in the PUM1 gene on chromosome 1. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the PUM1 gene on chromosome 1
  • The transmission is autosomal dominant
  • The onset is in the fourth and fifth decades

Neurological features

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Facial dysmorphic features

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Skeletal features

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Other features

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Magnetic resonance imaging (MRI) brain

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References

  1. Gennarino VA, Palmer EE, McDonell LM, et al. A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures. Cell 2018; 172:924-936.e11. 
  2. Lai KL, Liao YC, Tsai PC, Hsiao CT, Soong BW, Lee YC. Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia. Parkinsonism Relat Disord 2019; 66:220-223. 
  3. Bonnemason-Carrere P, Morice-Picard F, Pennamen P, et al. PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1. Am J Med Genet A 2019; 179:1030-1033.

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