Episodic ataxia type 2



Ataxia episódica con nistagmo;Ataxia episódica asociada a nistagmo; Ataxia paroxística cerebelosa hereditaria; Ataxia paroxística cerebelosa hereditaria con respuesta a acetazolamida

Tipo de test: 

Tiempo de espera: 

25 dias

Más información

Episodic ataxia type 2 (EA2) is produced as a result of heterozygous mutations in CACNA1A, which encodes a subunit a1A brain calcium channel P / Q type voltage-gated.
EA2 patients may experience paroxysmal attacks of ataxia, dizziness and nausea which comprise from 30 minutes to days. The onset of the disease occurs in childhood or early adolescence, like EA1.
Attacks may be associated to other symptoms such as headache (mostly of individuals appears migraine), dysarthria, diplopia, tinnitus, and hemiplegia. The frequency of attacks may vary from three or four times a week to once or twice a year.
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Tomado de GeneReviews




Autosomal dominant