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NEUROLOGY 2006;67:337-339
© 2006 American Academy of Neurology
Brief Communications

Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene

S. Saiki, MD*, K. Sakai, MD, PhD*, M. Saiki, MD, Y. Kitagawa, T. Umemori, MD, PhD, K. Murata, MD, PhD, M. Matsui, MD, PhD and G. Hirose, MD, PhD

From the Department of Neurology (S.S., K.S., M.S., Y.K., K.M., M.M., G.H.), Kanazawa Medical University, Ishikawa, Japan; and Department of Neurosurgery (T.U.), Kanazawa Neurosurgical Hospital, Ishikawa, Japan

Address correspondence and reprint requests to Dr. Shinji Saiki, Department of Medical Genetics, Cambridge Institute for Medical Genetics, Wellcome Trust/MRC Building, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2XY, UK; e-mail: ss644{at}cam.ac.uk

No genetically diagnosed cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) pedigrees with venous insufficiency have been described. In a CADASIL pedigree with varicose veins, the authors have identified a novel heterozygous mutation in the 3' splice acceptor site of intron 15 of the Notch3 gene. This, based on mRNA analysis, resulted in skipping of exon 16 including eight cysteine residues of EGF-like repeats.

*These authors contributed equally to this work.

Supported in part by a grant for Project Research from High-Technology Center of Kanazawa Medical University (H2003-8) and a grant for Promoted Research from Kanazawa Medical University (S2003-11).

Disclosure: The authors report no conflicts of interest.

Received August 13, 2005. Accepted in final form March 23, 2006.




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[Abstract] [Full Text] [PDF]


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