No association between multiple sclerosis and the Notch3 gene responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Issue 1 (1st July 2001)

• Record Type: Journal Article
• Authors: Broadley, S A; Sawcer, S J; Chataway, S J S; Coraddu, F; Coles, A; Gray, J; Roxburgh, R; Clayton, D; Compston, D A S
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 71:Issue 1(2001)
• Page Start: 97
• Page End: 99
• Publication Date: 2001-07-01
• Subjects: multiple sclerosis -- CADASIL -- Notch3 gene; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.71.1.97
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : The clinical and radiological overlap between multiple sclerosis and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL; MIM 125310) raises the possibility of diagnostic confusion and suggests that pleiotropic effects of the Notch3 gene might include influencing susceptibility to multiple sclerosis. To investigate these possibilities three microsatellites markers closely flanking the Notch 3 gene in 745 simplex families with multiple sclerosis were genotyped and exon 3 and exon 4 of the gene were directly sequenced in a subset of the index members from these families (n=93). No evidence for association was found in any of the three markers and none of the commoner mutations causing CADASIL were found in the sequenced patients.