8A03.14
Hereditary episodic ataxia
Ataxia episódica hereditária
CategoryDefinition
Autosomal dominant disorders associated with intermittent episodes of cerebellar dysfunction, with normal functioning or minimal ataxia and nystagmus between episodes. The two major subtypes include EA1 and EA2. EA1 is caused by a mutation of the KCNA1 gene coding and characterized by episodes triggered by exercise and muscle myokymia. EA2 is caused by a mutation in CACNA1A gene and involves more prolonged attacks of ataxia (lasting hours to days), and interictal residual ataxia with nystagmus.
Index Terms
Hereditary episodic ataxiaEpisodic ataxia type 6Episodic ataxia type 7Episodic ataxia type 1 - KCNA1 mutationEpisodic ataxia type 1Episodic ataxia type 3 - 1q42 mutationEpisodic ataxia type 4Episodic ataxia type 5 - CACNB4 mutationEpisodic ataxia type 5Episodic ataxia type 2 - CACNA1A mutationFamilial paroxysmal ataxia