脑淀粉样血管病，APP相关
基因病名称(英)
Cerebral amyloid angiopathy, APP-related
别名(英)
Amyloidosis cerebroarterial APP-related,Amyloidosis hereditary with cerebral hemorrhage Dutch variant,Cerebral amyloid angiopathy APP-related Arctic variant,Cerebral amyloid angiopathy APP-related Dutch variant,Cerebral amyloid angiopathy APP-related Flemish variant,Cerebral amyloid angiopathy APP-related Iowa variant,Cerebral amyloid angiopathy APP-related Italian variant,Familial occipital calcifications with hemorrhagic strokes leukoencephalopathy arterial dysplasia dementia,FOCHS-LADD,HCHWAD,HCHWA-D,Hereditary cerebral amyloid angiopathy Dutch type,Hereditary cerebral hemorrhage with amyloidosis Dutch type,Hereditary cerebral hemorrhage with amyloidosis Italian type
别名
淀粉样变性脑动脉APP相关,淀粉样变性遗传性脑出血荷兰变种,脑淀粉样血管病APP相关北极变种,脑淀粉样血管病APP相关荷兰变种,脑淀粉样血管病APP相关佛兰芒变种,脑淀粉样血管病APP相关Iowa变种,脑淀粉样血管病APP相关意大利变异，家族性枕叶钙化伴出血性中风白质脑病动脉发育不良性痴呆，FOCHS-LADD，HCHWAD，HCHWA-D，遗传性脑淀粉样血管病荷兰型，遗传性脑出血伴淀粉样变性荷兰型，遗传性脑出血伴淀粉样变性意大利式
统计
reviewed:1; annotated:0
交叉引用
605714,C2751536,C2931672,D028243
描述(英)
A hereditary localized amyloidosis due to amyloid-beta A4 peptide(s) deposition in the cerebral vessels. The principal clinical characteristics are recurrent cerebral and cerebellar hemorrhages, recurrent strokes, cerebral ischemia, cerebral infarction, and progressive mental deterioration. Patients develop cerebral hemorrhage because of the severe cerebral amyloid angiopathy. Parenchymal amyloid deposits are rare and largely in the form of pre-amyloid lesions or diffuse plaque-like structures. They are Congo red negative and lack the dense amyloid cores commonly present in Alzheimer disease. Some affected individuals manifest progressive aphasic dementia, leukoencephalopathy, and occipital calcifications.
描述
由于淀粉样蛋白-β A4 肽在脑血管中沉积而导致的遗传性局部淀粉样变性。主要临床特征是复发性脑和小脑出血、复发性中风、脑缺血、脑梗塞和进行性精神恶化。由于严重的脑淀粉样血管病，患者会出现脑出血。实质淀粉样蛋白沉积物很少见，主要以淀粉样蛋白前病变或弥漫性斑块样结构的形式出现。它们是刚果红阴性，缺乏阿尔茨海默病中常见的致密淀粉样蛋白核心。一些受影响的个体表现出进行性失语性痴呆、白质脑病和枕骨钙化。