We describe a clinical, imaging and biomarker phenotype associated with an amyloid precursor gene (APP) E665D variant in a 45-year-old man with progressive cognitive and behavioral dysfunction. Brain MRI showed bilateral, confluent T2 hyperintensities predominantly in the anterior white matter. Amyloid imaging and CSF testing were consistent with amyloid deposition. 7 Tesla MRI revealed cerebral microhemorrhages suggestive of cerebral amyloid angiopathy (CAA). Contrary to previous reports, this case raises the possibility that the APP E665D genetic change may be pathogenic, particularly given the abnormal Alzheimer’s disease biomarkers observed in the cerebrospinal fluid, positive amyloid imaging and imaging evidence for CAA in a relatively young patient with progressive cognitive decline.

我们描述了一个45岁的男性与进行性认知和行为功能障碍的淀粉样蛋白前体基因（APP）E665D变体相关的临床，影像学和生物标志物表型。脑部MRI显示双侧，汇合的T2高信号主要在前白质中。淀粉样蛋白成像和CSF测试与淀粉样蛋白沉积一致。7 Tesla MRI显示脑微出血提示脑淀粉样血管病（CAA）。与以前的报告相反，这种情况增加了APP E665D的可能性 基因改变可能是致病的，特别是考虑到脑脊髓液中观察到的阿尔茨海默氏病生物标志物异常，淀粉样蛋白阳性和CAA相对较年轻的进行性认知功能减退患者的影像学证据。