Episodic ataxia type 2 (EA2)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Episodic ataxia type 2 (EA2). This is caused by mutations in the CACNA1A gene. Fully referenced neurology checklist.
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
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Associated features in attacks
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Associated conditions
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Differential diagnosis
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Investigations
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Treatment
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Acronyms
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References
- 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.
- Jen JC, Graves TD, Hess EJ, et al. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007; 130:2484-2493.
- Choi KD, Choi JH. Episodic ataxias: clinical and genetic features. J Mov Disord 2016; 9:129-135.
- 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.
- 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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