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 counselling and testing of relatives at risk is critical in mutation carriers.
NOTCH3 gene mutations in subjects clinically suspected of CADASIL / L. Mosca, R. Marazzi, A. Ciccone, I. Santilli, A. Bersano, V. Sansone, E. Grosso, G. Mandrile, D.F. Giachino, L. Adobbati, E. Corengia, E. Agostoni, A. Fiumani, S. Gallone, E. Scarpini, M. Guidotti, R. Sterzi, C. Ajmone, A. Marocchi, S. Penco. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - 307:1-2(2011 Aug 15), pp. 144-148. [10.1016/j.jns.2011.04.019]
NOTCH3 gene mutations in subjects clinically suspected of CADASIL
V. Sansone;E. Scarpini;
2011
Abstract
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 counselling and testing of relatives at risk is critical in mutation carriers.
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