Utianski Rene L, Duffy Joseph R, Savica Rodolfo, Whitwell Jennifer L, Machulda Mary M, Josephs Keith A
a Department of Neurology , Mayo Clinic , Rochester , MN , USA.
b Department of Radiology , Mayo Clinic , Rochester , MN , USA.
Neurocase. 2018 Apr;24(2):121-123. doi: 10.1080/13554794.2018.1454963. Epub 2018 Mar 23.
A 62-year-old male presented with progressive isolated writing and spelling difficulties. Neurological, neuropsychological, speech, and language evaluations identified only minimal additional abnormalities. The presenting characteristics did not meet criteria for any particular variant of primary progressive aphasia; his clinical presentation is best described as primary progressive aphasia, with a predominant, almost pure agraphia. Brain MRI showed asymmetric, bilateral parenchymal volume loss, with left hippocampal atrophy. Fluorodeoxyglucose-F18 positron emission tomography showed hypometabolism in the lateral left frontal lobe, including Exner's area. Beta-amyloid and tau-positron emission tomography scans were negative, indicating the etiology was not Alzheimer's disease. The underlying neurodegenerative process is most likely related to TDP-43, although a 4-repeat tauopathy cannot be excluded. Following his clinical evolution, and ultimately identifying the underlying pathology from autopsy, will elucidate the etiology of this interesting clinical presentation.
一名62岁男性出现进行性孤立性书写和拼写困难。神经学、神经心理学、言语和语言评估仅发现极少的其他异常。其临床表现不符合任何特定类型的原发性进行性失语的标准；他的临床表现最好描述为原发性进行性失语，以显著的、几乎纯粹的失写症为主。脑部MRI显示不对称的双侧脑实质体积减少，伴有左侧海马萎缩。氟脱氧葡萄糖-F18正电子发射断层扫描显示左侧额叶外侧包括埃克斯纳区代谢减低。β-淀粉样蛋白和tau正电子发射断层扫描均为阴性，表明病因不是阿尔茨海默病。潜在的神经退行性过程很可能与TDP-43有关，尽管不能排除4重复tau蛋白病。随着他的临床病情发展，并最终通过尸检确定潜在病理，将阐明这种有趣临床表现的病因。
