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De novo mutation in the Notch3 gene causing CADASIL
Author(s) -
Joutel Anne,
Dodick David D.,
Parisi Joseph E.,
Cecillon Michaelle,
TournierLasserve Elisabeth,
Germaine Bousser Marie
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200003)47:3<388::aid-ana19>3.0.co;2-q
Subject(s) - cadasil , leukoencephalopathy , mutation , genetics , dementia , migraine , stroke (engine) , medicine , gene , biology , pathology , disease , mechanical engineering , engineering
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. Ann Neurol 2000;47:388–391