Journal of Neurology

, Volume 249, Issue 11, pp 1515–1519

Episodic ataxia type 2

Three novel truncating mutations and one novel missense mutation in the CACNA1A gene

Authors

  • A. M. J. M. van den Maagdenberg
    • MGC-Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
  • E. E. Kors
    • Department of Neurology, K5Q, Leiden University Medical Centre, P. O. Box 9600, 2300 RC Leiden, The Netherlands. M.D.Ferrari@LUMC.nl
  • E. R. Brunt
    • Department of Neurology, Groningen University Hospital, Groningen, The Netherlands
  • W. van Paesschen
    • Department of Neurology, University Hospital Gasthuisberg, University of Leuven, Belgium
  • J. Pascual
    • Department of Neurology, University Hospital Marques de Valdecilla, Santander, Spain
  • D. Ravine
    • Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom
  • S. Keeling
    • Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom
  • K. R. J. Vanmolkot
    • MGC-Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
  • F. L. M. G. Vermeulen
    • MGC-Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
  • G. M. Terwindt
    • Department of Neurology, K5Q, Leiden University Medical Centre, P. O. Box 9600, 2300 RC Leiden, The Netherlands. M.D.Ferrari@LUMC.nl
  • J. Haan
    • Department of Neurology, K5Q, Leiden University Medical Centre, P. O. Box 9600, 2300 RC Leiden, The Netherlands. M.D.Ferrari@LUMC.nl
  • R. R. Frants
    • MGC-Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
  • M. D. Ferrari
    • Department of Neurology, K5Q, Leiden University Medical Centre, P. O. Box 9600, 2300 RC Leiden, The Netherlands. M.D.Ferrari@LUMC.nl
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-002-0860-8

Cite this article as:
van den Maagdenberg, A., Kors, E., Brunt, E. et al. J Neurol (2002) 249: 1515. doi:10.1007/s00415-002-0860-8

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.

Key words episodic ataxia type 2 EA–2 CACNA1A calcium channel mutation analysis

Copyright information

© Steinkopff Verlag 2002