Salvadori Nicola, Russo Mirella, Biscetti Leonardo, D' Andrea Katia, Dottorini Massimo Eugenio, Parnetti Lucilla
Department of Medicine, Centre for Memory Disturbances, Laboratory of Neurochemistry, Section of Neurology, Perugia, Italy.
Department of Diagnostic Imaging, Nuclear Medicine Unit, Perugia General Hospital, Perugia, Italy.
BMJ Case Rep. 2018 Jun 17;2018:bcr-2018-224312. doi: 10.1136/bcr-2018-224312.
A 68-year-old lawyer developed insidious disturbances in topographic orientation and apraxia. He underwent a geriatric evaluation, only documenting slight cognitive disturbances, and a 18F-fluorodeoxyglucose positron emission tomography (FDG-PET), showing mild right-lateralised frontoparietal hypometabolism. After 1 year, because of worsening in spatial orientation and the onset of dressing apraxia, he was referred to our memory clinic. The neuropsychological evaluation documented proeminent visuospatial, praxis deficits and dysgraphia. Cerebrospinal fluid biomarker analysis showed mild increase of total-τ, with normal Aβ1-42, ruling out Alzheimer's disease. Progression of the right parietal hypometabolism at FDG-PET and right superior longitudinal fasciculus damage at high-field MRI revealed a probable neurodegenerative aetiology. The neurological examination disclosed then Gerstmann's and Balint's syndromes, and extrapyramidal signs later appeared, suggesting the diagnosis of posterior cortical atrophy associated with corticobasal syndrome. Genetic analysis for mutations inmicrotubule-associated protein tau , and genes was negative. A 1-year follow-up documented significant worsening of the cognitive and functional impairment, revealing a frank dementia.
一名68岁的律师出现了隐匿性的地形定向障碍和失用症。他接受了老年评估，仅记录了轻微的认知障碍，并进行了18F-氟脱氧葡萄糖正电子发射断层扫描（FDG-PET），显示右侧额顶叶轻度代谢减低。1年后，由于空间定向能力恶化以及穿衣失用症的出现，他被转诊至我们的记忆门诊。神经心理学评估记录了明显的视觉空间、失用症缺陷和书写障碍。脑脊液生物标志物分析显示总tau蛋白轻度升高，β淀粉样蛋白1-42正常，排除了阿尔茨海默病。FDG-PET显示右侧顶叶代谢减低进展，高场MRI显示右侧上纵束受损，提示可能存在神经退行性病因。随后的神经系统检查发现了格斯特曼综合征和巴林特综合征，后来出现了锥体外系体征，提示诊断为与皮质基底节综合征相关的后皮质萎缩。对微管相关蛋白tau、 及 基因的突变进行基因分析为阴性。1年的随访记录了认知和功能障碍的显著恶化，显示出明显的痴呆。
