摘要
中风是一种由基因和环境的相互作用所导致的复杂疾病。在某些情况下(主要是年轻人)中风是一种单基因疾病的直接结果。在中风的单基因原因中,成人一般神经系统表现最常遇到的疾病是遗传性多发梗死痴呆病,法布里病和线粒体疾病。大脑核磁共振和临床特征可能经常会提出一个正确的分子诊断。这里我们评论了缺血性中风的单基因原因,尤其是与评价相关的特性,这些特性可以帮助诊断。
关键词: 遗传性多发梗死痴呆病, 法布里病,局部缺血,线粒体脑肌病伴高乳酸血症和卒中样发作,中风。
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
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关键词: 遗传性多发梗死痴呆病, 法布里病,局部缺血,线粒体脑肌病伴高乳酸血症和卒中样发作,中风。
摘要: 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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Cite this article as:
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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