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Case Reports
. 2000 Mar;47(3):388-91.

De novo mutation in the Notch3 gene causing CADASIL

A Joutel  1 , D D Dodick, J E Parisi, M Cecillon, E Tournier-Lasserve, M G Bousser
Affiliations
  • PMID: 10716263
Case Reports

De novo mutation in the Notch3 gene causing CADASIL

A Joutel et al. Ann Neurol. 2000 Mar.

Abstract

CADASIL, an autosomal dominant arteriopathy responsible for stroke and dementia, is caused by strongly stereotyped mutations in the Notch3 gene. We report a patient with a condition strongly suggestive of CADASIL (migraine, stroke, and white matter abnormalities), except that this patient did not have any first-degree relatives with similar symptoms. This patient carried a heterozygous Arg182Cys mutation in the Notch3 gene; this mutation was absent in his two biological parents. These data demonstrate the occurrence of a de novo noninherited mutation in the Notch3 gene, which indicates that CADASIL should not be rejected in the absence of a family history. Therefore, our finding suggests that CADASIL may be more frequent than anticipated.

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