遗传性脑出血伴淀粉样变性——荷兰型：一种嗜刚果红血管病。综述。

Hereditary cerebral hemorrhage with amyloidosis--Dutch type: a congophilic angiopathy. An overview.

作者信息

Roos R A, Haan J, Van Broeckhoven C

机构信息

Department of Neurology, University Hospital, Leiden, The Netherlands.

出版信息

Ann N Y Acad Sci. 1991;640:155-60. doi: 10.1111/j.1749-6632.1991.tb00208.x.

DOI:10.1111/j.1749-6632.1991.tb00208.x

PMID:1776734

Abstract

Hereditary cerebral hemorrhage with amyloidosis--Dutch type (HCHWA-D) is characterized by recurrent cerebral hemorrhages and dementia at a relatively young age. The symptoms are caused by extensive deposition of amyloid in cerebral arterioles and leptomeningeal arteries. A point-mutation in the beta-protein precursor gene on chromosome 21 is the underlying cause of the disease. This paper summarizes the clinical, radiologic, pathologic, and genetic features of this disease, with special attention to the relation between HCHWA-D and Alzheimer's disease, which is also characterized by beta-protein deposition.

摘要

遗传性脑出血伴淀粉样变性——荷兰型（HCHWA-D）的特征是在相对年轻时反复出现脑出血和痴呆。这些症状是由淀粉样蛋白在脑小动脉和软脑膜动脉中的广泛沉积引起的。21号染色体上β蛋白前体基因的点突变是该疾病的根本原因。本文总结了该疾病的临床、放射学、病理学和遗传学特征，并特别关注HCHWA-D与同样以β蛋白沉积为特征的阿尔茨海默病之间的关系。