基础科学和病原发生学
Haritha Vardhini Katragadda1, Ali Ghaseminejad-Bandpey2, Mallory Keating1
1Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, University of Texas Health Sciences Center at San Antonio, San Antonio, TX, USA.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
概括
本案例报告详细介绍了一名69岁的女性患有前性痴呆症 (ALS-FTD) 的非典型肌缩侧面硬化症的表现,突出了独特的视觉空间缺陷和混合FTLD-TDP病理.
科学领域:
- 神经退行性疾病 神经退行性疾病
- 神经病理学神经病理学
- 临床神经学 临床神经学
背景情况:
- 带有前性痴呆症 (ALS-FTD) 的肌缩侧面硬化症呈现出运动和认知障碍.
- TDP-43蛋白质病变是标志性的,但不同的FTLD-TDP亚型使诊断复杂化.
- 这份报告的重点是诊断为ALS-FTD的69岁女性.
研究的目的:
- 为了呈现一种非典型的ALS-FTD病例.
- 描述临床,认知和病理特征.
- 为了突出诊断和分类的挑战.
主要方法:
- 评估了一名69岁的女性,她患有认知衰退,脱节症和行为变化.
- 随着时间的推移,进行了神经心理测试和MRI.
- 进行了死后神经病理学和免疫组织化学分析.
主要成果:
- 患者最初表现出轻度认知障碍 (MCI) 与视觉空间缺陷,后来进展为ALS-FTD.
- 尸检结果显示混合FTLD-TDP类型A和B病理,轻度脑血管疾病和中级阿尔茨海默氏病的神经病理变化.
- 在脊髓和大脑中观察到TDP-43的入;可能的C9ORF72扩张被表明.
结论:
- 这种ALS-FTD病例是不典型的,因为没有妄想和早期视觉空间缺陷.
- 混合FTLD-TDP类型A+B病理,通常与C9ORF72扩张和错觉有关,进一步强调其不寻常的性质.
- 这个案例强调了ALS-FTD表现和病理学的变异性.
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