a Department of Neurology, Memory and Aging Center , University of California , San Francisco , CA , USA.
b Department of Biomedical, Metabolic and Neural Science , University of Modena and Reggio Emilia , Modena , Italy.
Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):146-158. doi: 10.1080/21678421.2018.1556695. Epub 2019 Jan 22.
Behavioral variant frontotemporal dementia (bvFTD), is commonly considered the cognitive presentation of the frontotemporal dementia-motor neuron disease (FTD-MND) spectrum disorder. We evaluated the prevalence of primary progressive aphasia in a series of pathologically confirmed cases of FTD-MND spectrum. Pathologically confirmed cases of frontotemporal lobar degeneration-motor neuron disease (FTLD-MND) were obtained from the UCSF brain bank. Cases were analyzed for presence of language impairment via retrospective chart review of research visits that include neurologic exam, in-depth cognitive testing and magnetic resonance imaging (MRI) imaging. Forty one cases were included. Thirty two were diagnosed with FTD-MND, while nine cases were diagnosed as MND-only from clinical evaluation. Ten FTLD-MND cases (31%) presented with prominent or isolated language involvement consistent with a diagnosis of primary progressive aphasia (PPA), which we called progressive aphasia with motor neuron disease (PA-MND). Of these, three cases that mirrored the non-fluent variant of PPA (nfvPPA) were named nfvPA-MND. The imaging pattern of these nfvPA-MND showed atrophy strictly confined to the frontal and anterior temporal language cortical areas. Another group of seven cases that resembled patients with the semantic variant PPA (svPPA) were named svPA-MND. The group of svPPA-MND on imaging analysis showed selective atrophy of the temporal lobe and orbitofrontal cortex. Language impairment was a frequent phenotype of FTD-MND associated with focal atrophy patterns within the language networks. This data suggest patients with FTD-MND can present quite often with language phenotype of nfvPPA and svPPA, as opposed to exclusive bvFTD symptoms.
行为变异型额颞叶痴呆（bvFTD）通常被认为是额颞叶痴呆-运动神经元病（FTD-MND）谱障碍的认知表现。我们评估了一系列经病理证实的 FTD-MND 谱病例中原发性进行性失语症的患病率。经病理证实的额颞叶变性-运动神经元病（FTLD-MND）病例来自 UCSF 脑库。通过回顾性研究访问的图表审查，分析病例是否存在语言障碍，这些研究访问包括神经检查、深入认知测试和磁共振成像（MRI）成像。共纳入 41 例。32 例诊断为 FTD-MND，9 例仅根据临床评估诊断为 MND。10 例 FTLD-MND 病例（31%）表现出明显或孤立的语言受累，与原发性进行性失语症（PPA）的诊断一致，我们称之为伴有运动神经元病的进行性失语症（PA-MND）。其中，3 例与非流利型 PPA（nfvPPA）相吻合的病例被命名为 nfvPA-MND。这些 nfvPA-MND 的影像学模式显示萎缩严格局限于额颞语言皮质区。另一组 7 例类似于语义变异型 PPA（svPPA）的病例被命名为 svPA-MND。在影像学分析中，svPPA-MND 组表现为颞叶和眶额皮质选择性萎缩。语言障碍是 FTD-MND 的常见表型，与语言网络内的局灶性萎缩模式相关。这些数据表明，FTD-MND 患者常以 nfvPPA 和 svPPA 的语言表型为表现，而不是单纯的 bvFTD 症状。
