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NEUROLOGY 2004;62:1213-1215
© 2004 American Academy of Neurology
Brief Communications

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations

D. J. Verlaan, BSc, S. B. Laurent, BTS, U. Sure, MD, H. Bertalanffy, MD, E. Andermann, MD PhD, F. Andermann, MD, G. A. Rouleau, MD PhD and A. M. Siegel, MD

From the Center for Research in Neurosciences and Department of Neurology and Neurosurgery (Dr. Rouleau, D.J. Verlaan, S.B. Laurent), McGill University, Montreal, and Department of Neurology and Neurosurgery (Drs. E. Andermann and F. Andermann), Montreal Neurological Hospital, Quebec, Canada; Department of Neurosurgery (Drs. Sure and Bertalanffy), University of Marburg, Germany; and Epilepsy Program (Dr. Siegel), Department of Neurology, University Hospital Zürich, Switzerland.

Address correspondence and reprint requests to Dr. A.M. Siegel, Epilepsy Program Zürich, Department of Neurology, University Hospital Zürich, Frauenklinikstreet 26, CH-8091, Zürich, Switzerland; e-mail: adrian.siegel{at}usz.ch

Cerebral cavernous malformations (CCM) are CNS vascular anomalies associated with seizures, headaches, and hemorrhagic strokes. The CCM1 gene was screened in 35 sporadic cases with either single or multiple CCM. It was found that 29% of the individuals with multiple CCM have a CCM1 mutation, whereas cases with only one malformation have none. Sporadic cases with multiple malformations warrant the same approach as individuals who have a familial history of CCM.

Received June 3, 2003. Accepted in final form December 1, 2003.




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