在神经退行与脑铁积累障碍的神经退行中嗅觉状态
Elahe Amini1, Mohammad Rohani2,3, Maryam Jalessi4
1ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
概括
嗅觉功能障碍在神经退行与大脑铁积累障碍 (NBIA) 中很常见,影响气味识别和歧视. 这种损伤可以作为NBIA亚型的诊断生物标志物.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 生物标志物 生物标志物
背景情况:
- 嗅觉功能障碍是神经退行性疾病中的潜在生物标志物.
- 有限的研究存在于罕见的神经退行与大脑铁积累障碍 (NBIA) 的嗅觉状态.
研究的目的:
- 为了研究遗传确认的NBIA患者的嗅觉功能.
- 评估嗅觉功能障碍作为NBIA中的潜在诊断生物标志物.
主要方法:
- 纳入基因确认的NBIA患者和对照组.
- 使用Sniffin' Sticks测试 (气味值,区分,识别,TDI得分) 评估嗅觉.
- 进行了神经和认知评估 (PKAN-DRS,MMSE).
主要成果:
- 与对照组相比,NBIA患者的嗅觉得分 (TDI,OT,OD,OI) 显著较低.
- 60%的NBIA患者表现出低血;在认知上正常的患者中,嗅觉障碍持续存在.
- 脂酶A2相关的神经退行 (PLAN) 和线粒体膜蛋白相关的神经退行 (MPAN) 患者的气味识别得分低于PKAN患者.
结论:
- 嗅觉障碍是NBIA亚型中常见的发现,可以作为歧视性生物标志物.
- 在PKAN,PLAN和MPAN之间嗅觉识别的差异表明了不同的潜在病理.
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