title: The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important cause of hereditary stroke. Mutations in the Notch3 gene are clearly causally linked to this progressive vascular disorder. Cerebral ischemic attacks, cognitive decline, strokes, and vascular dementia constitute the major manifestations of this disorder. This report details the prenatal detection of a Notch3 mutation in the fetus of a couple where the father had a known mutation in this gene. This is the first report of a prenatal diagnosis of CADASIL, and another example of a serious, highly penetrant, and relentlessly progressive degenerative genetic disorder presenting decades after birth and for which prenatal diagnosis is an option.
authors.affiliation: Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA. amilunsk@bu.edu
authors.forename: A
authors.initials: A
authors.lastname: Milunsky
authors.forename: C
authors.initials: C
authors.lastname: Konialis
authors.forename: S H
authors.initials: SH
authors.lastname: Shim
authors.forename: T A
authors.initials: TA
authors.lastname: Maher
authors.forename: K
authors.initials: K
authors.lastname: Spengos
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: C
authors.initials: C
authors.lastname: Pangalos
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D046589:CADASIL / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch