Neurology Genetics ( IF 3.1 ) Pub Date : 2020-04-01 , DOI: 10.1212/nxg.0000000000000411 Mariel G Kozberg 1 , Susanne J van Veluw 1 , Matthew P Frosch 1 , Steven M Greenberg 1
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.
中文翻译:
遗传性脑淀粉样血管病,皮埃蒙特型突变。
我们在此报告一例有脑出血 (ICH) 家族史的患者,该患者快速连续出现多个大脑叶出血,并伴有认知障碍,该患者被发现淀粉样蛋白的 β-淀粉样蛋白编码序列发生突变前体蛋白 (Leu705Val),称为 Piedmont 型突变,是第二例报道这种形式的遗传性脑淀粉样血管病 (CAA) 的病例。
通过使用离体 MRI 辅助进行有针对性的病理检查。
观察到严重的 CAA 主要累及软脑膜血管,其次是皮层血管,没有淀粉样斑块或神经原纤维缠结。
这种 β-淀粉样蛋白沉积与多处大出血的软脑膜模式证明了与 Piedmont 型突变相关的 CAA 独特的病理生理特征,表明软脑膜 CAA 与更大的 ICH 之间存在潜在关联。