Article
NOTCH3 gene mutations in subjects clinically suspected of CADASIL.
Journal of the neurological sciences - 15 Aug 2011
Mosca Lorena, Marazzi Raffaella, Ciccone Alfonso, Santilli Ignazio, Bersano Anna, Sansone Valeria, Grosso Enrico, Mandrile Giorgia, Giachino Daniela Francesca, Adobbati Laura, Corengia Elisabetta, Agostoni Elio, Fiumani Anna, Gallone Salvatore, Scarpini Elio, Guidotti Mario, Sterzi Roberto, Ajmone Clara, Marocchi Alessandro, Penco Silvana
Abstract excerpt
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene. A cluster of mutations around exons 3 and 4 was originally reported. Identification of pathogenic mutation is important for diagnostic confirmation of the disease, however genetic...
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