Episodic ataxia type 2 - Three novel truncating mutations and one novel missense mutation in the CACNA1A gene

A.M.J.M. Van Den Maagdenberg, E.E. Kors, E.R. Brunt, W. Van Paesschen, J. Pascual, David Ravine, S. Keeling, K.R.J. Vanmolkot, F.L.M.G. Vermeulen, G.M. Terwindt, J. Haan, R.R. Frants, M.D. Ferrari

    Research output: Contribution to journalArticle

    27 Citations (Scopus)

    Abstract

    We analysed the CACNA1A gene, located on chromosome 19p 13, 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.
    Original languageEnglish
    Pages (from-to)1515-1519
    JournalJournal of Neurology
    Volume249
    DOIs
    Publication statusPublished - 2002

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