TUFM变种导致白质异常,模仿多发性硬化症
Shihan Chen1, Grant A Mitchell2, Jean-Francois Soucy2,3
1Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
European journal of neurology
|July 11, 2023
概括
线粒体呼吸链缺陷可以导致联合MRC功能障碍 (COXPD). 这个案例突出了一个患有TUFM基因变异的患者,呈现出COXPD4和模仿多发性硬化症 (MS) 的脑MRI发现.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 神经学 神经学
背景情况:
- 线粒体呼吸链 (MRC) 缺陷导致具有不同临床和遗传特征的组合MRC功能障碍 (COXPD).
- TUFM基因变异与COXPD相关,通常表现为严重的早期症状.
研究的目的:
- 报告一个患有异合体TUFM基因变异的患者病例,该变异具有COXPD的特征4.
- 描述在患有TUFM相关疾病的患者身上模仿多发性硬化症 (MS) 的放射性发现.
主要方法:
- 一位37岁的女性的临床评估,她有着步行和平衡问题,有乳酸性酸性病史和感觉神经耳聋.
- 神经学检查,脑部核磁共振,氧化酸化分析和外体序列测序.
- 临床进展和MRI变化的5年随访.
主要成果:
- 患者在MRI上表现出尼斯塔格姆,面部虚弱,高血压,缺氧和多焦点白质异常.
- 氧化酸化分析显示,特定的MRC复合物 (CI/CII,CIV/CII,CVI/CII) 的综合降低.
- 外体序列测定发现了两种异合体TUFM基因变异;在5年内观察到最小的临床进展和稳定的MRI发现.
结论:
- 这一案例扩大了已知的TUFM相关疾病的范围,包括较轻微,较晚发病的形式.
- 与TUFM相关的疾病中的多焦点白质异常可能被误诊为获得的脱髓化疾病,如MS.
- 在分泌体疾病的差异诊断中应考虑与TUFM相关的疾病,这些疾病具有MS类放射性特征.
相关概念视频
03:03Amyloid Fibrils
9.6K
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
9.6K
01:24Magnetic Resonance Imaging
5.2K
Magnetic resonance imaging (MRI) is a noninvasive medical imaging technique based on a phenomenon of nuclear physics discovered in the 1930s, in which matter exposed to magnetic fields and radio waves was found to emit radio signals. In 1970, a physician and researcher named Raymond Damadian noticed that malignant (cancerous) tissue gave off different signals than normal body tissue. He applied for a patent for the first MRI scanning device in clinical use by the early 1980s. The early MRI...
5.2K