目的:报道1例额颞叶痴呆(FTD)伴行为异常、行走不稳定的临床表现和遗传特点。
方法:分析最终诊断为FTD的患者的临床和影像学特征。病人的神经心理学,PET-CT,肌电图,并收集了遗传数据。此外,对患者的血液样本进行FTD相关基因检测。
结果:患者为一名52岁男性患者,发病隐匿。症状逐渐进展,表现出异常行为,包括重复购物,拿走别人的东西,经常吃零食,晚上经常打电话给朋友。患者还表现出执行功能障碍,例如无法烹饪和多重驾驶问题,例如,开车时不断偏离车道。此外,患者表现出性格变化,如易怒,冷漠,和退出,以及运动症状,包括行走不稳定和行走时经常跌倒。脑磁共振成像显示海马硬化以及双侧颞叶沟的扩大和加深。通过PET-CT进行的脑代谢成像显示双侧前额叶代谢降低,异常的能量代谢表明FTD。最后,血液样本分析检测到肌萎缩侧索硬化症(ALS)相关GRN基因c.1352C>T的突变(p.P451L)和ErbB4基因c.256T>C(p。Y86H)。
结论:这是FTD中GRN和ErbB4基因杂合突变的首例。GRN和ErbB4基因可能在FTD的发病机制中起重要作用,扩大ALS和FTD的共同遗传概况。
OBJECTIVE: To report the clinical manifestation and genetic characteristics of a patient having frontotemporal dementia (FTD) with abnormal behavior and unstable walking.
METHODS: The clinical and imaging features of a patient who was eventually diagnosed with FTD were analyzed. The patient\'s neuropsychological, PET-CT, electromyography, and genetic data were collected. Furthermore, the patient\'s blood samples were examined for FTD-related genes.
RESULTS: The patient was a 52-year-old man with hidden onset. The symptoms progressed gradually, presenting with abnormal behaviors, including repeated shopping, taking away other people\'s things, constantly eating snacks, and frequently calling friends at night. The patient also exhibited executive dysfunction, such as the inability to cook and multiple driving problems, e.g., constantly deviates from his lane while driving. In addition, the patient showed personality changes such as irritability, indifference, and withdrawal, as well as motor symptoms, including unstable walking and frequent falls when walking. Brain magnetic resonance imaging revealed hippocampal sclerosis along with widening and deepening of the bilateral temporal lobe sulcus. Brain metabolic imaging via PET-CT demonstrated decreased metabolism in the bilateral prefrontal lobe, with the abnormal energy metabolism indicating FTD. Lastly, blood sample analysis detected mutations in the amyotrophic lateral sclerosis (ALS)-related GRN gene c.1352C > T (p.P451L) and ErbB4 gene c.256 T > C (p.Y86H).
CONCLUSIONS: This is the first case of heterozygous mutations in the GRN and ErbB4 genes in FTD alone. The GRN and ErbB4 genes are likely to be important in the pathogenesis of FTD, expanding the common genetic profile of ALS and FTD.