PDF(Pubmed)
Abstract：
We report a patient with logopenic variant primary progressive aphasia (lv-PPA) who was diagnosed as having non-Alzheimer\'s disease (AD) tauopathy after multiple biophysical/biological examinations, including amyloid and 18F-florzolotau tau positron emission tomography (PET), had been performed. A woman in her late 60s who had previously been diagnosed as having AD was referred to us for a further, detailed examination. She had been unaware of any symptoms at the time of AD diagnosis, but she subsequently became gradually aware of a speech impairment. She talked nearly completely and fluently, although she occasionally exhibited word-finding difficulty and made phonological errors during naming, word fluency testing, and sentence repetition; these findings met the criteria for the diagnosis of lv-PPA, which is known to be observed more commonly in AD than in other proteinopathies. Magnetic resonance imaging, single photon emission computed tomography, and plasma phosphorylated tau and plasma neurofilament light chain measurements showed an AD-like pattern. However, both 11C-Pittsburgh compound-B and 18F-florbetaben amyloid PET showed negative results, whereas 18F-florzolotau tau PET yielded positive results, with radio signals predominantly in the left superior temporal gyrus, middle temporal gyrus, supramarginal gyrus, and frontal operculum. Whole-genome sequencing revealed no known dominantly inherited mutations in AD or frontotemporal lobar degeneration genes, including the genes encoding amyloid precursor protein, microtubule-associated protein tau, presenilin 1 and 2. To the best of our knowledge, this patient was a rare case of lv-PPA who was diagnosed as having non-AD tauopathy based on the results of multiple examinations, including whole-genome sequencing, plasma measurement, and amyloid and 18F-florzolotau tau PET. This case underscores the clinicopathologically heterogeneous nature of this syndrome.
摘要：
我们报告了一名logopenic变异型原发性进行性失语症（lv-PPA）患者，经多次生物物理/生物学检查后被诊断为非阿尔茨海默氏病（AD）tau蛋白病，包括淀粉样蛋白和18F-florzolotautau正电子发射断层扫描（PET），已经执行了。一名60多岁的女性之前被诊断为患有AD，被进一步转诊给我们，详细检查。她在AD诊断时没有意识到任何症状，但随后她逐渐意识到了言语障碍。她说话几乎完全流利，尽管她偶尔表现出单词查找困难，并在命名时犯了语音错误，单词流畅性测试,和句子重复；这些发现符合lv-PPA的诊断标准，已知在AD中比在其他蛋白质病中更常见。磁共振成像,单光子发射计算机断层扫描，和血浆磷酸化tau和血浆神经丝轻链测量显示AD样模式。然而,11C-匹兹堡复方B和18F-florbetaben淀粉样蛋白PET均显示阴性结果，而18F-florzolotautauPET产生阳性结果，无线电信号主要在左颞上回，颞中回,颈上回，和额叶盖骨。全基因组测序显示，在AD或额颞叶变性基因中没有已知的显性遗传突变，包括编码淀粉样前体蛋白的基因，微管相关蛋白tau，早老素1和2。据我们所知,该患者是罕见的lv-PPA病例，根据多次检查结果被诊断为非ADtau蛋白病变，包括全基因组测序，等离子体测量,和淀粉样蛋白和18F-florzolotautauPET。该病例强调了该综合征的临床病理异质性。
