Zhang-Nunes Sandy X, Maat-Schieman Marion L C, van Duinen Sjoerd G, Roos Raymund A C, Frosch Matthew P, Greenberg Steven M
Neurology Clinical Trials Unit and MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital, Boston 02114, USA.
Brain Pathol. 2006 Jan;16(1):30-9. doi: 10.1111/j.1750-3639.2006.tb00559.x.
We review the clinical, radiologic, and neuropathologic features of the hereditary and sporadic forms of cerebral amyloid angiopathy (CAA) associated with vascular deposition of the beta-amyloid peptide. Amino acid substitutions at 4 sites in the beta-amyloid precursor protein, all situated within the beta-amyloid peptide sequence itself, have been shown to cause heritable forms of CAA. The vascular diseases caused by these mutations are associated primarily with cerebral hemorrhages, white matter lesions, and cognitive impairment, and only variable extents of the plaque and neurofibrillary pathologies characteristic of Alzheimer disease. Sporadic CAA typically presents 20 or more years later than hereditary CAA, but is otherwise characterized by a comparable constellation of recurrent cerebral hemorrhages, white matter lesions, and cognitive impairment. The clinical, radiologic and pathologic similarities between hereditary and sporadic CAA suggest that important lessons for this common age-related process can be learned from the mechanisms by which mutation makes beta-amyloid tropic or toxic to vessels.
我们回顾了与β-淀粉样肽血管沉积相关的遗传性和散发性脑淀粉样血管病（CAA）的临床、放射学和神经病理学特征。β-淀粉样前体蛋白中4个位点的氨基酸替代，均位于β-淀粉样肽序列本身内，已被证明可导致遗传性CAA。这些突变引起的血管疾病主要与脑出血、白质病变和认知障碍相关，且仅伴有阿尔茨海默病特征性斑块和神经原纤维病变的不同程度表现。散发性CAA通常比遗传性CAA晚20年或更久出现，但在其他方面的特征是反复性脑出血、白质病变和认知障碍的类似组合。遗传性和散发性CAA之间的临床、放射学和病理学相似性表明，可从使β-淀粉样蛋白对血管具有嗜性或毒性的突变机制中，汲取有关这一常见的年龄相关过程的重要经验教训。
