临床病理相关性在前叶退化-运动神经元疾病谱中的临床病理相关性
Álvaro Carbayo1,2,3, Sergi Borrego-Écija4, Janina Turon-Sans1,2,3
1Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute (IIB Sant Pau) Sant Pau, Barcelona 08025, Spain.
Brain : a journal of neurology
|January 16, 2024
概括
前性痴呆症 (FTD) 在35.5%的运动神经元疾病 (MND) 患者中发生,通常具有TDP-43病理. 神经病理学对于诊断FTD-MND亚型至关重要,因为异质性和缺乏生物标志物.
科学领域:
- 神经科学是一个神经科学.
- 神经病理学神经病理学
- 遗传学 遗传学 是一个
背景情况:
- 肌缩侧面硬化症 (ALS) 是一种运动神经元疾病 (MND),与前性痴呆症 (FTD) 有共同的特征.
- 认知行为症状影响多达50%的MND患者,其中10-15%符合FTD标准.
- 神经病理学对于诊断MND-FTD亚型至关重要,因为疾病异质性和缺乏生物标志物.
研究的目的:
- 分析在大型神经病理确诊的运动神经元疾病 (MND) 系列中同时发生的前叶退化 (FTLD) 的频率.
- 根据MND-FTD频谱中的临床,遗传和病理特征定义特定的患者子组.
- 为了比较MND与没有FTLD之间的临床病理特征.
主要方法:
- 追溯性,观察性,多中心病例研究124名MND患者的神经病理确认.
- 对临床,遗传和神经病理学数据的分析,包括TDP-43综合分期 (Brettschneider阶段).
- 神经病理组 (MND与FTLD-MND) 的比较和临床病理相关性的评估.
主要成果:
- 35.5%的MND病例表现出FTLD的神经病理特征 (FTLD-MND).
- 在FTLD-MND病例中,病理性TDP-43聚合物更为广泛 (P < 0.001).
- 在FTLD-MND (P = 0.023) 中,泡泡发病更频繁,病原性遗传变异 (特别是C9orf72) 的患病率更高.
结论:
- 在神经病理学确诊的MND病例中,FTD存在于三分之一以上,这突显了FTD和MND的重大重叠.
- FTD-MND频谱高度异质,使子组定义具有挑战性,特别是在FTD的情况下.
- 神经病理学仍然是准确诊断和理解疾病鼻学不可或缺的,因为没有明确的生物标志物.
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