Spinocerebellar ataxia type 47 (SCA47)

Evidence-based neurology checklist on spinocerebellar ataxia type 47 (sca47): 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 Facial dysmorphic features Skeletal features…

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

Facial dysmorphic features

Skeletal features

Other features

Magnetic resonance imaging (MRI) brain

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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