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当代阿耳茨海默病研究

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ISSN (Print): 1567-2050
ISSN (Online): 1875-5828

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Case Report

CCNF基因突变引起的行为变异额颞叶痴呆1例报告

卷 20, 期 5, 2023

发表于: 22 September, 2023

页: [371 - 378] 页: 8

弟呕挨: 10.2174/1567205020666230811092906

价格: $65

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摘要

背景：额叶、颞叶痴呆(FTD)和肌萎缩侧索硬化症(ALS)是致命的神经退行性疾病。研究发现在家族性和散发性ALS和FTD患者中发现了CCNF突变。行为变异额颞叶痴呆(behavioral variant frontotemporal dementia, bvFTD)是一种以人格、社会行为和认知功能进行性恶化为特征的临床综合征，与遗传因素关系最为密切。由于bvFTD的早期症状是高度异质性的，这种情况经常被误诊为阿尔茨海默病或精神障碍。本研究中，一名bvFTD患者发生CCNF基因突变，导致泛素化蛋白积累，最终导致神经退行性疾病。迫切需要提高bvFTD患者及其家属的基因检测水平，为早期诊断额颞叶痴呆提供临床参考。 案例展示：本例患者年龄65岁，起病隐匿，早发性记忆丧失，情节记忆明显下降，早期诊断为AD，口服盐酸多奈哌齐3年疗效不佳，后改为口服盐酸美金刚片，病情控制数月。改用低甘露酸钠胶囊治疗，病情逐渐得到控制，但未见明显好转。自发停药后，病情进展迅速;因此，他到我们医院接受了中度至重度认知障碍的神经心理测试。AD脑脊液标志物未见明显异常，头颅MRI显示额颞叶萎缩，海马体积减小。基因检测显示CCNF基因存在c.1532C > a (p. T511N)杂合变异，这可能是bvFTD的诊断标准。因此，患者联用多奈哌齐、口服盐酸美金刚片、低甘露酸钠治疗后症状一过性改善后再次出现，但总体情况较术前有所改善，并在随访中继续观察该治疗方案的变化。 结论：bvFTD的早期临床表现复杂多变，易误诊，延误治疗。因此，对于临床高度怀疑FTD的患者，除了详细了解其病史和家族史，完善相关检查外，还应尽早进行基因检测，以帮助确诊。对于与基因密切相关的疾病，应尽可能优化其他家庭成员的基因检测，以便早期诊断和干预，指导下一代生育。

关键词: 行为变异，额颞叶痴呆，肌萎缩侧索硬化症，CCNF基因，病例报告，FTD。

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