De novo mutation in the notch3 gene causing CADASIL

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

Research output: Contribution to journalArticle

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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

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CADASIL
Mutation
Genes
Stroke
Migraine Disorders
Dementia
Parents

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Joutel, A., Dodick, D. W., Parisi, J. E., Cecillon, M., Tournier-Lasserve, E., & Bousser, M. G. (2000). De novo mutation in the notch3 gene causing CADASIL. Annals of Neurology, 47(3), 388-391. https://doi.org/10.1002/1531-8249(200003)47:3<388::AID-ANA19>3.0.CO;2-Q

De novo mutation in the notch3 gene causing CADASIL. / Joutel, Anne; Dodick, David William; Parisi, Joseph E; Cecillon, Michaelle; Tournier-Lasserve, Elisabeth; Bousser, Marie Germaine.

In: Annals of Neurology, Vol. 47, No. 3, 2000, p. 388-391.

Research output: Contribution to journalArticle

Joutel, A, Dodick, DW, Parisi, JE, Cecillon, M, Tournier-Lasserve, E & Bousser, MG 2000, 'De novo mutation in the notch3 gene causing CADASIL', Annals of Neurology, vol. 47, no. 3, pp. 388-391. https://doi.org/10.1002/1531-8249(200003)47:3<388::AID-ANA19>3.0.CO;2-Q
Joutel, Anne ; Dodick, David William ; Parisi, Joseph E ; Cecillon, Michaelle ; Tournier-Lasserve, Elisabeth ; Bousser, Marie Germaine. / De novo mutation in the notch3 gene causing CADASIL. In: Annals of Neurology. 2000 ; Vol. 47, No. 3. pp. 388-391.
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