与NOTCH2NLC相关的神经元内核包容性疾病中的插曲性脑病变:临床谱和拟议的分类框架
Jingzhen Liang1, Shaoping Zhong1, Yangye Lian1
1Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China.
Journal of the neurological sciences
|December 27, 2025
概括
插曲性脑病是NOTCH2NLC相关的神经元内核包容性疾病 (NIID) 的常见表现. 这种疾病具有明显的临床和放射性特征,影响患者的治疗结果,需要特定的管理策略.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 神经成像是一种神经成像.
背景情况:
- 插曲性脑病变是NOTCH2NLC相关的神经元内核包容性疾病 (NIID) 的一个研究不足的方面.
- 目前对NIID的研究受到小样本规模和长期跟踪不足的限制.
- 对NIID的偶发性脑病变表现的全面了解对于诊断和管理至关重要.
研究的目的:
- 在NOTCH2NLC相关的NIID中全面描述情节性脑病变的临床和放射性特征.
- 为了比较患有和没有发作性脑病变的患者,以确定区分因素.
- 在NIID中提出一种对阴发作事件的分类框架.
主要方法:
- 对65名被诊断患有NOTCH2NLC相关NIID的患者进行了回顾性分析.
- 根据意识障碍,分类为偶发性脑病变阳性 (NIID-EP) 和偶发性脑病变阴性 (NIID-EN) 组.
- 收集和比较临床数据,包括神经学检查,成像和实验室结果.
主要成果:
- 与NIID-EN相比,NIID-EP患者 (n=27) 在MRI上表现出更高的发烧,膀功能障碍,异常行为和脑干超强度的发病率.
- 五名患者呈现出类似MELAS的插曲性脑病变,表现出大脑,高 perfusion,皮质层状缩以及乳酸峰的纵向变化.
- 在三名NIID-EP患者中观察到高氨血,在降氨疗法后迅速改善;NIID-EP患者的结果更差.
结论:
- 插曲性脑病是NIID的常见,多样化和预后重要特征.
- 潜在的潜在机制包括炎症,线粒体功能障碍和高氨血.
- 患有情节性脑病变的NIID可能代表了由特定的MRI发现为特征的遗传性白细胞脑病变中共享的表型.
关键词:
插曲性脑病变 (Episodic encephalopathy) 是一种发作性脑病变.过高氨血的情况.类似于MELAS的偶发性脑病变.这就是为什么MRI是MRI.神经元内核包容性疾病是神经元内核包容性疾病.更多相关视频
08:20Hippocampal Neuronal Cultures to Detect and Study New Pathogenic Antibodies Involved in Autoimmune Encephalitis
Published on: June 2, 2022
3.8K
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.5K
相关概念视频
Neural Regulation
43.0K
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
43.0K
Notch Signaling Pathway
6.3K
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...
6.3K
Insensitive Nuclei Enhanced by Polarization Transfer (INEPT)
960
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...
960
Seizures: Classification
1.3K
Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
1.3K
Aneurysm II: Clinical Manifestations and Diagnostic Studies
193
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
193
