The temporal variant of frontotemporal dementia (tv-FTD) is a progressive neurodegenerative disease with a complex clinical picture mainly characterized by behavioral and language disorders. In this work, we describe clinical, genetic, neuroanatomical and neuropathological (only in one case) features of two patients with tv-FTD carrying C9orf72 repeat expansion. The first patient (AB) presented with a 1-year disease duration showing focal right anterior temporal lobe (ATL) atrophy on magnetic resonance imaging (MRI). The second patient (BC) came to medical attention 13 years after disease onset and showed a prominent bilateral ATL involvement. Both patients showed naming deficits, impairment in identifying known faces and proper names, and personality changes with new onset behavioral rigidity, and progressing language difficulties to single-word and sentence comprehension difficulties. They were classified as tv-FTD. Clinical, cognitive and MRI follow-up were performed. As cognitive impairment progressed, MRI atrophy worsened in ATL and frontotemporal areas in both patients. Both cases had clear family histories of neurological and/or psychiatric disease. Genetic testing revealed a C9orf72 hexanucleotide repeat expansion in both cases. BC passed away after 15 years of disease and autopsy showed the expected TDP-type B pathology. These genetic cases of tv-FTD highlight the susceptibility of ATL to C9orf72-related pathology and emphasize the importance of genetical testing in FTD-spectrum disorders, regardless of the clinical phenotype.

中文翻译：

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C9orf72重复扩展携带者额颞叶痴呆的时间变异：两个案例研究。

额颞痴呆（tv-FTD）的时间变异是一种进行性神经退行性疾病，其临床表现复杂，主要表现为行为和语言障碍。在这项工作中，我们描述了两名携带C9orf72的tv-FTD患者的临床，遗传，神经解剖学和神经病理学特征（仅在一种情况下）重复扩展。第一名患者（AB）的病程为1年，在磁共振成像（MRI）上显示出局灶性右前颞叶（ATL）萎缩。第二位患者（BC）在发病13年后就医，并表现出明显的双侧ATL参与。两名患者均表现出命名缺陷，识别已知面孔和专有名称的障碍以及人格改变以及新的发作行为僵化，以及语言困难逐步发展为单词和句子理解困难。它们被分类为电视-FTD。进行了临床，认知和MRI随访。随着认知障碍的进展，两名患者的ATL和额颞区的MRI萎缩都加重了。这两例病例都有明确的神经和/或精神疾病家族史。基因检测发现在两种情况下，C9orf72六核苷酸重复扩增。疾病15年后，卑诗省去世，尸检显示预期的TDP B型病理。这些tv-FTD的遗传病例突出了ATL对C9orf72相关病理的敏感性，并强调了基因测试在FTD频谱疾病中的重要性，无论其临床表型如何。