Farid Karim, Carter Stephen F, Rodriguez-Vieitez Elena, Almkvist Ove, Andersen Pia, Wall Anders, Blennow Kaj, Portelius Erik, Zetterberg Henrik, Nordberg Agneta
Department NVS, Centre for Alzheimer Research, Translational Alzheimer Neurobiology, Karolinska Institutet, Stockholm, Sweden.
Wolfson Molecular Imaging Cener, University of Manchester, Manchester, United Kingdom.
J Alzheimers Dis. 2015;47(3):661-7. doi: 10.3233/JAD-141965.
Amyotrophic lateral sclerosis (ALS), a fatal disease of unknown origin, affects motor neurons in the primary motor cortex, brainstem, and spinal cord. Cognitive impairment may occur before the motor symptoms. We present a patient who was initially diagnosed with mild cognitive impairment (MCI) due to Alzheimer's disease (AD) but who developed ALS-like symptoms during follow-up and died shortly thereafter. A 60-year-old subject with cognitive impairment underwent neuropsychological testing, cerebrospinal fluid (CSF) analysis, structural imaging (computed tomography and magnetic resonance imaging) and functional imaging [11C]-Pittsburgh compound B (PIB) positron emission tomography (PET), [18F]-fluorodeoxyglucose (FDG) PET, and [11C]-deuterium-L-deprenyl (DED) PET. Neuropsychological testing showed episodic memory impairment. CSF P-tau and T-tau levels were elevated. CSF amyloid-β (Aβ)42 levels were initially normal but became pathological during follow-up. MCI was diagnosed. [18F]-FDG PET showed hypometabolism in the left temporal and prefrontal cortices and [11C]-PIB PET demonstrated amyloid plaque deposition in the prefrontal, posterior cingulate, and parietal cortices. [11C]-DED PET showed high brain accumulation consistent with astrocytosis. The memory impairment progressed and AD was diagnosed. Motor impairments developed subsequently and, following additional neurological evaluation, ALS was diagnosed. The disease progressed rapidly and the patient died with pronounced motor symptoms three years after the initial cognitive assessment. Since relatives refused autopsy, postmortem analysis was not possible.
肌萎缩侧索硬化症（ALS）是一种病因不明的致命疾病，会影响初级运动皮层、脑干和脊髓中的运动神经元。认知障碍可能在运动症状出现之前就已发生。我们报告了一名最初被诊断为因阿尔茨海默病（AD）导致的轻度认知障碍（MCI）的患者，但该患者在随访期间出现了类似ALS的症状，随后不久死亡。一名患有认知障碍的60岁受试者接受了神经心理学测试、脑脊液（CSF）分析、结构成像（计算机断层扫描和磁共振成像）以及功能成像[11C] - 匹兹堡化合物B（PIB）正电子发射断层扫描（PET）、[18F] - 氟脱氧葡萄糖（FDG）PET和[11C] - 氘代L - 司来吉兰（DED）PET。神经心理学测试显示情景记忆受损。脑脊液P - tau和T - tau水平升高。脑脊液淀粉样β蛋白（Aβ）42水平最初正常，但在随访期间变为病理性。诊断为MCI。[18F] - FDG PET显示左侧颞叶和前额叶皮层代谢减低，[11C] - PIB PET显示前额叶、后扣带回和顶叶皮层有淀粉样斑块沉积。[11C] - DED PET显示大脑摄取高，与星形细胞增生一致。记忆障碍进展，诊断为AD。随后出现运动障碍，经过进一步的神经学评估，诊断为ALS。疾病进展迅速，患者在首次认知评估三年后因明显的运动症状死亡。由于亲属拒绝尸检，无法进行死后分析。
