On the diagnosis of CADASIL.

Journal article

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 ...

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Authors: Ampuero, I; Alegre-Abarrategui, J; Rodal, I; España, A; Ros, R

• Journal: Journal of Alzheimer's disease : JAD
• Volume: 17
• Issue: 4
• Pages: 787-794
• Publication date: 2009-01-01
• DOI: 10.3233/jad-2009-1112
• EISSN: 1875-8908
• ISSN: 1387-2877
• Language: English
• Keywords: Mutation; Humans; Polymerase Chain Reaction; Sensitivity and Specificity; Middle Aged; CADASIL; Receptors, Notch; Female; Spain; Male; Questionnaires; Magnetic Resonance Imaging; Diagnosis, Differential; Follow-Up Studies; Skin; Aged; Immunohistochemistry; Brain; Biopsy