Abstract
Stroke is a complex disease resulting from the interplay of genetics and environment. In some instances (mainly in young adults) stroke is the direct result of a monogenic disease. Among the monogenic causes of stroke, the diseases which are most frequently encountered in the adult general neurological practice are CADASIL, Fabry and mitochondrial diseases. Brain MRI and clinical features may frequently lead to a correct molecular diagnosis. Here we review the single-gene causes of ischemic stroke, with special regard to the associated features which may help in the diagnostic approach.
Keywords: CADASIL, Fabry disease, ischemia, MELAS, stroke.
Current Molecular Medicine
Title:Common Genetic Conditions of Ischemic Stroke to Keep in Mind
Volume: 14 Issue: 8
Author(s): M. Mancuso, D. Orsucci, E. Caldarazzo Ienco, M. Brondi, C. Simoncini, A. Chiti, V. Montano, E. Terni, N. Giannini, G. Siciliano and U. Bonuccelli
Affiliation:
Keywords: CADASIL, Fabry disease, ischemia, MELAS, stroke.
Abstract: Stroke is a complex disease resulting from the interplay of genetics and environment. In some instances (mainly in young adults) stroke is the direct result of a monogenic disease. Among the monogenic causes of stroke, the diseases which are most frequently encountered in the adult general neurological practice are CADASIL, Fabry and mitochondrial diseases. Brain MRI and clinical features may frequently lead to a correct molecular diagnosis. Here we review the single-gene causes of ischemic stroke, with special regard to the associated features which may help in the diagnostic approach.
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Mancuso M., Orsucci D., Ienco Caldarazzo E., Brondi M., Simoncini C., Chiti A., Montano V., Terni E., Giannini N., Siciliano G. and Bonuccelli U., Common Genetic Conditions of Ischemic Stroke to Keep in Mind, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010132258
DOI https://dx.doi.org/10.2174/1566524014666141010132258 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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