Abstract.
We analysed the CACNA1A gene, located on chromosome 19p13, in three unrelated families and one sporadic case with episodic ataxia type 2 (EA–2). In two of the families and the sporadic patient, novel truncating mutations, which disrupt the reading frame and result in a premature stop of the CACNA1A protein, were identified in exons 14, 16 and 26. In the remaining family, a novel missense mutation (H253Y) was found. Of the twenty two EA–2 mutations identified thus far, including those of the present study, seventeen are truncating mutations and five are missense mutations, all resulting in an EA–2 clinical phenotype.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
Author information
Authors and Affiliations
Additional information
Received: 20 December 2001, Received in revised form: 15 April 2002, Accepted: 22 April 2002
Correspondence to M. D. Ferrari, MD PhD
Rights and permissions
About this article
Cite this article
van den Maagdenberg, A., Kors, E., Brunt, E. et al. Episodic ataxia type 2 . J Neurol 249, 1515–1519 (2002). https://doi.org/10.1007/s00415-002-0860-8
Issue Date:
DOI: https://doi.org/10.1007/s00415-002-0860-8