Division of Neurology 5-Neuropathology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
Front Biosci (Landmark Ed). 2013 Jun 1;18(4):1202-26. doi: 10.2741/4173.
Cerebral amyloidoses are chronic, progressive neurodegenerative diseases that are caused by the aggregation and deposition of misfolded proteins in the central nervous system, and lead to cognitive deficits, stroke, and focal neurological dysfunction including cerebellar and extrapyramidal signs. Among them, beta-amyloidoses are a heterogenous set of conditions characterised by the deposition of beta-amyloid protein in brain parenchyma and/or vessel walls that lead to the development of two main clinico-pathological entities: Alzheimer's disease and cerebral amyloid angiopathy, which may be sporadic or familial, and may also co-exist in the same patient. The aim of this review is to describe the most important differences in the pathways leading to parenchymal and cerebrovascular beta-amyloidoses, and the main clinical, neuropathological and biochemical characteristics of the two conditions. It also discusses the phenotypes associated with a series of familial and sporadic beta-amyloidoses in more detail in order to highlight the clinical and neuropathological features that may help to distinguish the different forms of disease.
脑淀粉样血管病是由中枢神经系统中错误折叠的蛋白质聚集和沉积引起的慢性、进行性神经退行性疾病，可导致认知障碍、卒中和局灶性神经功能障碍，包括小脑和锥体外系体征。其中，β-淀粉样血管病是一组异质性疾病，其特征是β-淀粉样蛋白在脑实质和/或血管壁中的沉积，导致两种主要的临床病理实体的发展：阿尔茨海默病和脑淀粉样血管病，其可以是散发性或家族性的，也可以在同一患者中同时存在。本文旨在描述导致实质和脑血管β-淀粉样血管病的途径的重要差异，以及这两种疾病的主要临床、神经病理学和生物化学特征。它还详细讨论了一系列家族性和散发性β-淀粉样血管病相关表型，以突出有助于区分不同疾病形式的临床和神经病理学特征。
