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NEUROLOGY 2004;63:561-564
© 2004 American Academy of Neurology
Brief Communications

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL

R. Mazzei, PhD, F. L. Conforti, PhD, P. L. Lanza, MD, T. Sprovieri, PhD, M. R. Lupo, MD, O. Gallo, PhD, A. Patitucci, PhD, A. Magariello, PhD, M. Caracciolo, MD, A. L. Gabriele, PhD, F. Fera, MD, P. Valentino, MD, F. Bono, MD, G. Cenacchi, MD, G. Santoro, MD, M. Muglia, PhD and A. Quattrone, MD

From the Institute of Neurological Sciences (Drs. Mazzei, Conforti, Lanza, Sprovieri, Lupo, Gallo, Patitucci, Magariello, Caracciolo, Gabriele, Fera, Santoro, Muglia, and Quattrone), National Research Council, Piano Lago di Mangone, Cosenza, Italy; Department of Neurological Sciences (Drs. Lanza and Santoro), Ospedale Annunziata, Cosenza, Italy; Department of Radiological and Istocytopathological Sciences, Section of Pathology (Dr. Cenacchi), University of Bologna, Italy; and Institute of Neurology (Drs. Valentino, Bono, and Quattrone), University Magna Graecia, Catanzaro, Italy.

Address correspondence and reprint requests to Dr. Aldo Quattrone, Professor of Neurology, Cattedra e U.O. di Neurologia-Policlinico Materdomini, Via T. Campanella, 88100 Catanzaro, Italy; e-mail: a.quattrone{at}isn.cnr.it

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to accumulating neurologic deficits and dementia. CADASIL has been linked to nucleotide substitutions and deletions in the Notch3 gene. All the mutations described until now lead to unpaired cysteine residue in the epidermal growth factor-like repeats. The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue.

Received August 10, 2003. Accepted in final form March 19, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the August 10 issue to find the title link for this article.




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