阿尔茨海默病 1
基因病名称(英)
Alzheimer disease 1
关键字(英)
Alzheimer disease,Neurodegeneration,Amyloidosis
别名(英)
Autosomal dominant Alzheimer disease,Early-onset Alzheimer disease with cerebral amyloid angiopathy
别名
常染色体显性阿尔茨海默病、早发性阿尔茨海默病伴脑淀粉样血管病
统计
reviewed:1; annotated:0
交叉引用
104300,C1863052,D000544
描述(英)
A familial early-onset form of Alzheimer disease. It can be associated with cerebral amyloid angiopathy. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.
描述
一种家族性早发性阿尔茨海默病。它可能与脑淀粉样血管病有关。阿尔茨海默病是一种神经退行性疾病，其特征在于进行性痴呆、认知能力丧失以及纤维状淀粉样蛋白沉积为神经元内神经原纤维缠结、细胞外淀粉样蛋白斑块和血管淀粉样蛋白沉积物。这些斑块的主要成分是神经毒性β-淀粉样蛋白40 和β-淀粉样蛋白42，它们是由跨膜APP 蛋白的蛋白水解产生的。细胞毒性 C 末端片段 (CTF) 和半胱天冬酶切割产物，如 C31，也与神经元死亡有关。