Hereditary cerebral small vessel diseases: A review

被引：63
作者：
Federico, Antonio [1 ]
Di Donato, Ilaria [1 ]
Bianchi, Silvia [1 ]
Di Palma, Chiara [1 ]
Taglia, Ilaria [1 ]
Dotti, Maria Teresa [1 ]
机构：
[1] Univ Siena, Sch Med, Dept Neurol Neurosurg & Behav Sci, I-53100 Siena, Italy
来源：
JOURNAL OF THE NEUROLOGICAL SCIENCES | 2012年 / 322卷 / 1-2期
关键词：
Small vessels; CADASIL; CARASIL; Hereditary stroke; AUTOSOMAL RECESSIVE ARTERIOPATHY; SUBCORTICAL INFARCTS; CEREBRORETINAL VASCULOPATHY; NOTCH3; MUTATIONS; COL4A1; MUTATION; FABRY-DISEASE; IV COLLAGEN; CADASIL; STROKE; TREX1;
D O I：
10.1016/j.jns.2012.07.041
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Cerebral microangiopathies are responsible of a great number of strokes. In the recent years advances in molecular genetics identified several monogenic conditions involving cerebral small vessels and predisposing to ischemic and/or hemorrhagic stroke and diffuse white matter disease leading to vascular dementia. Clinical features and diagnostic clues of these conditions, [cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), COL4Al-related cerebral small vessel diseases, autosomal dominant retinal vasculopathy with cerebral leukodystrophy (AD-RVLC), and Fabry's disease] are here reviewed. Albeit with variable phenotypes and with different defective genes, all these disorders produce arteriopathy and microvascular disintegration with changes in brain functions. Specific diagnostic tools are recommended, genetic analysis being the gold standard for the diagnosis. (C) 2012 Elsevier B.V. All rights reserved.
引用
收藏
页码：25 / 30
页数：6
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