Episodic ataxia type 2 (EA2)

Evidence-based neurology checklist on episodic ataxia type 2 (ea2): Genetics and clinical features This is caused by mutations in the CACNA1A gene CACNA1A is also associated with FHM1 and SCA6 The onset age is 5-20 years Ataxic episodes may last hours to days Triggers Associated features in…

Genetics and clinical features

  • This is caused by mutations in the CACNA1A gene
  • CACNA1A is also associated with FHM1 and SCA6
  • The onset age is 5-20 years
  • Ataxic episodes may last hours to days

Triggers

Associated features in attacks

Associated conditions

Differential diagnosis

Investigations

Treatment

Acronyms

References

  1. Gasser T, Finstererb J, Baetsc J, et al. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2010, 17:179–188.
  2. Jen JC, Graves TD, Hess EJ, et al. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007; 130:2484-2493.
  3. Choi KD, Choi JH. Episodic ataxias: clinical and genetic features. J Mov Disord 2016; 9:129-135.
  4. Guterman EL, Yurgionas B, Nelson AB. Pearls & Oy-sters: Episodic ataxia type 2: Case report and review of the literature. Neurology 2016; 86:e239-e241.
  5. Pradotto L, Mencarelli M, Bigoni M, Milesi A, Di Blasio A, Mauro A. Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation. J Neurol Sci 2016; 371:81-84. 
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