title: A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene.
abstract: The diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is usually confirmed by genetic testing or skin biopsy. We here report the case of a 69-year-old woman with recurrent transient ischemic attacks (TIAs) and strokes, seizures, and dementia without any mutations in exons 3 and 4 of the Notch3 gene and with a normal skin biopsy, but who showed characteristic CADASIL abnormalities on brain pathological examination. Our findings suggest that negative results in these two tests do not exclude the disease and a leptomeningeal biopsy or a second skin biopsy should be considered in such cases.
authors.affiliation: Department of Neurology, Centre Hospitalier Universitaire Vaudois, CH1011, Lausanne, Switzerland. gfreitas@nitnet.com.br
authors.forename: G R
authors.initials: GR
authors.lastname: de Freitas
authors.forename: J
authors.initials: J
authors.lastname: Miklossy
authors.forename: S
authors.initials: S
authors.lastname: Christen-Zäch
authors.forename: M
authors.initials: M
authors.lastname: Reichhart
authors.forename: J
authors.initials: J
authors.lastname: Bogousslavsky
mesh_terms: D000368:Aged; D001706:Biopsy; D001921:Brain / Q000473:pathology / Q000648:ultrastructure; D002536:Cerebral Arteries / Q000473:pathology / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D015161:Dementia, Multi-Infarct / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009131:Muscle, Smooth, Vascular / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch; D012867:Skin / Q000473:pathology*
chemical_list: C499374:NOTCH3 protein, human; D011518:Proto-Oncogene Proteins; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch