在NOTCH2NLC相关的神经元内核包容性疾病中神经传导研究的诊断价值
Yun Tian1,2,3, Xuan Hou1, Wanqian Cao4
1Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Journal of the peripheral nervous system : JPNS
|September 26, 2023
概括
神经内核包容性疾病 (NIID) 通常涉及多神经病变. 神经传导研究有效地将NIID与Charcot-Marie-Tooth疾病区分开来,有助于诊断.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- 神经内核包容性疾病 (NIID) 是一种罕见的渐进性神经退行性疾病,与NOTCH2NLC基因GGC重复扩张有关.
- 多神经病是NIID患者常见的临床表现.
结论:
- 外围多神经病是NIID的一个重要特征.
- 神经传导研究是区分NIID与CMT等其他神经病变的宝贵工具.
相关概念视频
Insensitive Nuclei Enhanced by Polarization Transfer (INEPT)
368
Insensitive Nuclei Enhanced by Polarization Transfer (INEPT) is an advanced Nuclear Magnetic Resonance (NMR) technique specifically designed to detect and enhance the signals of low-abundance nuclei, such as carbon-13 and nitrogen-15, in small molecules. The fundamental principle behind INEPT is the transfer of polarization from a more abundant and highly polarizable nucleus, typically hydrogen-1, to the low-abundance nucleus of interest. This process effectively boosts the NMR signal of the...
368
Notch Signaling Pathway
4.3K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.3K
Local Anesthetics: Differential Sensitivity of Nerve Fibers
857
Local anesthetics (LAs) block the sodium channels of nerve trunks, sensory nerve endings, and neuromuscular junctions. Although LAs can block all kinds of nerves, the sensitivity of nerve fibers differs according to nerve types and structures. LAs are known to block myelinated fibers faster than unmyelinated ones. Also, they block pain or sensory neurons at low concentrations without affecting the motor neurons involved in muscle contractions. This helps relieve labor pain without affecting the...
857


