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Neurology 2002;59:277-279
© 2002 American Academy of Neurology
Brief Communications

C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke

J. F. Arboleda–Velasquez, MD*;, F. Lopera, MD*;, E. Lopez, MSc, M. P. Frosch, MD PhD, D. Sepulveda–Falla, J. E. Gutierrez, MD, S. Vargas, MD, M. Medina, PhD, C. Martinez de Arrieta, PhD, R. V. Lebo, PhD, S. A. Slaugenhaupt, PhD, R. A. Betensky, PhD, A. Villegas, MD MSc, M. Arcos–Burgos, MD PhD, D. Rivera, J. C. Restrepo and K. S. Kosik, MD

*These authors contributed equally to this research.
From the Center for Neurological Diseases (Drs. Arboleda–Velasquez, Medina, Martinez de Arrieta, and Villegas), Brigham and Women’s Hospital–Harvard Medical School; Pathology Department (Dr. Frosch) and Neurology Department (Dr. Slaugenhaupt), Massachusetts General Hospital–Harvard Medical School; Department of Biostatistics (Dr. Betensky), Harvard School of Public Health, Boston, MA; Wilson Laboratory (Dr. Lebo), George Washington University, Washington, DC; Grupo de Neurociencias de Antioquia (Drs. Lopera, Gutierrez, and Vargas, E. Lopez, D. Sepulveda–Falla, and J. Restrepo), and Grupo de Genetica de Poblaiciones, Mutacarciogenesis y Epidemiologica Genetica (Dr. Arcos–Burgos and D. Rivera), Universidad de Antioquia, Medellin, Colombia.

Address correspondence and reprint requests to Dr. Kenneth Kosik, Harvard Institutes of Medicine, 77 Avenue Louis Pasteur, Boston, MA 02115; e-mail: kosik{at}cnd.bwh.harvard.edu

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the notch3 epidermal growth factor–like repeats. A Colombian kindred carries a novel C455R mutation located in the predicted ligand-binding domain. Stroke occurred in the patients at an unusually early age (median age: 31 years) in comparison to the more frequent onset in the fourth decade of life in other CADASIL populations, including a second Colombian kindred with an R1031C mutation.




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