Kozberg Mariel G, van Veluw Susanne J, Frosch Matthew P, Greenberg Steven M
MassGeneral Institute for Neurodegenerative Disease (M.G.K., S.J.v.V.), Massachusetts General Hospital and Harvard Medical School, Charlestown; Department of Neurology (M.G.K., S.J.v.V., S.M.G.), Massachusetts General Hospital, Boston; Department of Neurology (M.G.K.), Brigham and Women's Hospital, Boston; J. Philip Kistler Stroke Research Center (S.J.v.V., S.M.G.), Massachusetts General Hospital and Harvard Medical School, Boston; and Neuropathology Service, C. S. Kubik Laboratory for Neuropathology (M.P.F), Massachusetts General Hospital and Harvard Medical School, Boston.
Neurol Genet. 2020 Mar 13;6(2):e411. doi: 10.1212/NXG.0000000000000411. eCollection 2020 Apr.
We present here a case report of a patient with a family history of intracerebral hemorrhages (ICHs) who presented with multiple large lobar hemorrhages in rapid succession, with cognitive sparing, who was found to have a mutation in the β-amyloid coding sequence of amyloid precursor protein (Leu705Val), termed the Piedmont-type mutation, the second ever reported case of this form of hereditary cerebral amyloid angiopathy (CAA).
Targeted pathologic examination was performed aided by the use of ex vivo MRI.
Severe CAA was observed mainly involving the leptomeningeal vessels and, to a far lesser extent, cortical vessels, with no amyloid plaques or neurofibrillary tangles.
This leptomeningeal pattern of β-amyloid deposition coupled with multiple large hemorrhages demonstrates unique pathophysiologic characteristics of CAA associated with the Piedmont-type mutation, suggesting a potential association between leptomeningeal CAA and larger ICHs.
我们在此报告一例有脑出血（ICH）家族史的患者，该患者相继出现多个大的脑叶出血，认知功能保留，经发现其淀粉样前体蛋白的β-淀粉样蛋白编码序列存在突变（Leu705Val），称为皮埃蒙特型突变，这是该形式遗传性脑淀粉样血管病（CAA）报告的第二例病例。
在离体MRI辅助下进行靶向病理检查。
观察到严重的CAA，主要累及软脑膜血管，在较小程度上累及皮质血管，无淀粉样斑块或神经原纤维缠结。
这种β-淀粉样蛋白沉积的软脑膜模式与多个大的出血相结合，显示出与皮埃蒙特型突变相关的CAA独特的病理生理特征，提示软脑膜CAA与较大的ICH之间可能存在关联。
