title: On the diagnosis of CADASIL.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic arteriopathy related to Notch3 mutations, is difficult to diagnosis. The goal of this study was to determine the value of clinical, immunohistochemical, and molecular techniques for the diagnosis of CADASIL. Clinical features and the immunohistochemical and molecular findings in 200 subjects with suspected CADASIL in whom 93 biopsies and 190 molecular studies are reported. Eighteen pathogenic mutations of the Notch3 gene, six of them previously unreported, were detected in 67 patients. The clinical features did not permit differentiation between CADASIL and CADASIL-like syndromes. The sensitivity and specificity of the skin biopsies was 97.7% and 56.5%, respectively, but increased to 100% and 81.5%, respectively, in cases with proven family history. In conclusion, a clinical diagnosis of CADASIL is difficult to determine and confirmatory techniques should be used judiciously.
authors: Banco de Tejidos para Investigaciones Neurológicas (BTIN), Facultad de Medicina, Universidad Commplutense de Madrid, Madrid, Spain. fuinvesn@med.ucm.es
authors: Israel
authors: I
authors: Ampuero
authors: Javier
authors: J
authors: Alegre-Abarrategui
authors: Izaskun
authors: I
authors: Rodal
authors: Antonio
authors: A
authors: España
authors: Raquel
authors: R
authors: Ros
authors: José Luis Lopez
authors: JL
authors: Sendón
authors: Eva García
authors: EG
authors: Galloway
authors: Angeles
authors: A
authors: Cervelló
authors: Ana Belén
authors: AB
authors: Caminero
authors: Antxon
authors: A
authors: Zabala
authors: Elena
authors: E
authors: Erro
authors: Fernando
authors: F
authors: Jarauta
authors: Lorenzo
authors: L
authors: Morlán
authors: Eva
authors: E
authors: López-Valdés
authors: Yolanda
authors: Y
authors: Aladro
authors: Manuel
authors: M
authors: Seijo
authors: Guillermo García
authors: GG
authors: Rivas
authors: David G
authors: DG
authors: Muñoz
authors: Justo García
authors: JG
authors: de Yébenes
mesh_terms: D000368:Aged; D001706:Biopsy; D001921:Brain / Q000473:pathology*; D046589:CADASIL / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics* / Q000378:metabolism; D012680:Sensitivity and Specificity; D012867:Skin / Q000473:pathology*; D013030:Spain / Q000453:epidemiology; D011795:Surveys and Questionnaires
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch