Spinocerebellar ataxia type 13 (SCA13)

Evidence-based neurology checklist on spinocerebellar ataxia type 13 (sca13): Genetics This is caused by mutations in the KCNC3 gene mutation on chromosome 19q Infantile onset cases are associated with F448L mutations Adult onset cases are associated with R423H and R420H mutations The mutations…

Genetics

  • This is caused by mutations in the KCNC3 gene mutation on chromosome 19q
  • Infantile onset cases are associated with F448L mutations
  • Adult onset cases are associated with R423H and R420H mutations
  • The mutations alter the Kv3.3 voltage gated potassium channel function

Clinical features

Magnetic resonance imaging (MRI)

Electro-oculography

Synonym

References

  1. Herman-Bert A, Stevanin G, Netter JC, et al. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet 2000; 67:229-235.
  2. Montaut S, Apartis E, Chanson JB, et al. SCA13 causes dominantly inherited non-progressive myoclonus ataxia. Parkinsonism Relat Disord 2017; 38:80-84.
  3. Minassian NA, Lin MC, Papazian DM. Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13. J Physiol 2012; 590:1599-1614.
  4. Issa FA, Mock AF, Sagasti A, Papazian DM. Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development. Dis Model Mech 2012; 5:921-929. 
  5. Stevanin G, Durr A, Benammar N, Brice A. Spinocerebellar ataxia with mental retardation (SCA13). Cerebellum 2005; 4:43-46. 
  6. And 1 more. Subscribe to see the full list

Related checklists

Loading...