De novo mutation in the notch3 gene causing CADASIL

Anne Joutel, David D. Dodick, Joseph E. Parisi, Michaelle Cecillon, Elisabeth Tournier-Lasserve, Marie Germaine Bousser

Research output: Contribution to journalArticlepeer-review

142 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)388-391
Number of pages4
JournalAnnals of neurology
Volume47
Issue number3
DOIs
StatePublished - 2000

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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