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脑淀粉样血管病:病理、生化及遗传学视角

Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view.

作者信息

Revesz Tamas, Ghiso Jorge, Lashley Tammaryn, Plant Gordon, Rostagno Agueda, Frangione Blas, Holton Janice L

机构信息

Queen Square Brain Bank, Department of Molecular Neuroscience and Division of Neuropathology, Institute of Neurology, University College London, London, United Kingdom.

出版信息

J Neuropathol Exp Neurol. 2003 Sep;62(9):885-98. doi: 10.1093/jnen/62.9.885.

Abstract

Amyloid deposition can take place in the walls of arteries, arterioles, and, less often, capillaries and veins of the central nervous system, a phenomenon known as cerebral amyloid angiopathy (CAA). The major clinicopathological manifestations of CAA include cerebral hemorrhage, ischemic lesions, and dementia. CAA may be classified according to the amyloid protein deposited. In the most common form, sporadic CAA, and in CAA related to sporadic Alzheimer disease (AD). A beta deposition is characteristic. CAA can also be severe in variants of familial AD caused by mutations of the amyloid-beta precursor protein or presenilin-1 genes in which deposition of A beta variants and/or wild-type A beta occurs. Other amyloid proteins involved in familial CAAs include 1) the mutant cystatin C (ACys) in hereditary cerebral hemorrhage with amyloidosis of Icelandic type, 2) variant transthyretins (ATTR) in meningo-vascular amyloidoses, 3) mutated gelsolin (AGel) in familial amyloidosis of Finnish type, 4) disease-associated prion protein (PrP(Sc)) in a variant of the Gerstmann-Sträussler-Scheinker syndrome, and 5) ABri and ADan in CAAs observed in the recently described BRI2 gene-related dementias, familial British dementia and familial Danish dementia, respectively. This review addresses issues related to the correlation between morphology, biochemistry, and genetics, and briefly discusses both the pathogenesis and animal models of CAAs.

摘要

淀粉样蛋白沉积可发生于中枢神经系统的动脉、小动脉壁,较少见于毛细血管和静脉壁,这种现象称为脑淀粉样血管病(CAA)。CAA的主要临床病理表现包括脑出血、缺血性病变和痴呆。CAA可根据沉积的淀粉样蛋白进行分类。最常见的形式是散发性CAA,以及与散发性阿尔茨海默病(AD)相关的CAA。β-淀粉样蛋白沉积是其特征。在由淀粉样前体蛋白或早老素-1基因突变引起的家族性AD变体中,CAA也可能很严重,其中会发生β-淀粉样蛋白变体和/或野生型β-淀粉样蛋白的沉积。与家族性CAA相关的其他淀粉样蛋白包括:1)冰岛型遗传性脑出血伴淀粉样变性中的突变型胱抑素C(ACys);2)脑膜血管淀粉样变性中的变体转甲状腺素蛋白(ATTR);3)芬兰型家族性淀粉样变性中的突变凝溶胶蛋白(AGel);4)格斯特曼-施特劳斯勒-申克综合征变体中的疾病相关朊蛋白(PrP(Sc));5)分别在最近描述的与BRI2基因相关的痴呆、家族性英国痴呆和家族性丹麦痴呆中观察到的CAA中的ABri和ADan。本综述探讨了与形态学、生物化学和遗传学之间相关性相关的问题,并简要讨论了CAA的发病机制和动物模型。

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