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Neurology 2001;57:1714-1717
© 2001 American Academy of Neurology
Brief Communications

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL

Martin Dichgans, MD, Jürgen Herzog, MD and Thomas Gasser, MD

From the Department of Neurology, Klinikum Großhadern, Ludwig-Maximilians-Universität, Munich, Germany.

Address correspondence and reprint requests to Dr. M. Dichgans, Department of Neurology, Klinikum Grosshadern, Marchioninistraße 15, D-81377 Munich, Germany; e-mail: mdichgans{at}nefo.med.uni-muenchen.de

Mutations in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary angiopathy causing stroke and vascular dementia. All CADASIL mutations identified so far result in the loss or gain of one cysteine residue within epidermal growth factor (EGF)-like repeat domains. Here an in-frame deletion causing a loss of three cysteine residues within EGF repeat 6 is reported. These data are consistent with the hypothesis that the change toward an odd number of cysteine residues within a given EGF repeat and therefore an unpaired, reactive cysteine residue is the common and critical molecular event in CADASIL.




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