Spinocerebellar ataxia type 50 (SCA50)

Evidence-based neurology checklist on spinocerebellar ataxia type 50 (sca50): Genetics This is caused by GAA repeat mutations in the NPTX1 gene on chromosome 17 The gene is also associated with infantile ataxia and secondary generalised epilepsy The transmission is autosomal dominant The mean…

Genetics

  • This is caused by GAA repeat mutations in the NPTX1 gene on chromosome 17
  • The gene is also associated with infantile ataxia and secondary generalised epilepsy
  • The transmission is autosomal dominant
  • The mean onset age is 61 years: it may be as young as 6 years

Movement disorders

Oculomotor features

Cognitive features

Other clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Coutelier M, Jacoupy M, Janer A, et al. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain 2022; 145:1519-1534.
  2. Schöggl J, Siegert S, Boltshauser E, Freilinger M, Schmidt WM. A de novo missense NPTX1 variant in an individual with infantile-onset cerebellar ataxia. Mov Disord 2022; 37:1774-1776. 
  3. Rafehi H, Read J, Szmulewicz D, et al. An intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia SCA50/ATX-FGF14. Am J Hum Genet 2022; 110:105-119.
  4. Helmchen C, Koch PJ, Girard G, Brüggemann N, Machner B, Sprenger A. NPTX1-related oculomotor apraxia: an intra-hemispheric disconnection disorder. J Neurol 2022; 269:3931-3936.
  5. Deppe J, Deininger N, Lingor P, Haack TB, Haslinger B, Deschauer M. A novel NPTX1 de novo variant in a late-onset ataxia patient. Mov Disord 2022; 37:1319-1321.

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