在神经元内核包容性疾病中自主功能障碍的特征
Lu Zhou1, Yun Tian1,2,3, Sizhe Zhang1
1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Frontiers in neurology
|June 30, 2023
概括
自主功能障碍 (AutD) 在神经元内核包容性疾病 (NIID) 中非常普遍,几乎影响所有患者. 该SCOPA-AUT问卷有效地识别和量化AUTD,与疾病严重程度和症状相关联.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 自主神经科学 自主神经科学
背景情况:
- 神经内核包容性疾病 (NIID) 是一种罕见的神经系统疾病.
- 自主功能障碍 (AutD) 是NIID的一个潜在但未被充分研究的特征.
研究的目的:
- 调查一大批NIID患者中AutD的患病率和特征.
- 评估SCOPA-AUT问卷在NIID中评估AutD的有用性.
- 探索自闭症和NIID的临床特征之间的关联.
主要方法:
- 一组122名NIID患者和122名对照人群使用SCOPA-AUT问卷进行了评估.
- 在NOTCH2NLC基因中进行了GGC扩展重复的遗传查.
- 对所有患者进行了神经心理和临床评估.
主要成果:
- 自主功能障碍 (AutD) 在94.26%的NIID患者中存在,明显高于多个领域的对照组.
- 在SCOPA-AUT问卷中,在NIID患者中区分AUTD的高精度被证明是 (AUC=0.846).
- 自闭症严重程度与年龄,疾病持续时间,神经精神科目录 (NPI) 评分和日常生活活动 (ADL) 障碍有正相关.
结论:
- 在NIID中,SCOPA-AUT是诊断和量化AUTD的一个有价值的工具.
- 自闭症的高患病率使得在出现不明原因的自主功能障碍的患者中,需要考虑NIID.
- 在NIID中AUTD与疾病进展,衰老以及认知和精神症状有关.
相关概念视频
Neural Regulation
39.6K
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.
39.6K
Parkinson's Disease: Overview
606
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
606
Disorders of the Nervous Tissue
1.4K
Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
1.4K
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Additional Subnuclear Structures
4.6K
The eukaryotic nucleus is a double membrane-bound organelle that contains nearly all of the cell’s genetic material in the form of chromosomes. It is rightly called the “brain” of the cell as it shoulders the responsibility of responding to various physiological processes, stress, altered metabolic conditions, and other cellular signals.
The nucleus contains many membrane-less subnuclear organelles or nuclear bodies, such as nucleoli, Cajal bodies, speckles,...
The nucleus contains many membrane-less subnuclear organelles or nuclear bodies, such as nucleoli, Cajal bodies, speckles,...
4.6K
Cell Inclusions
50
Prokaryotic cells possess a variety of inclusions that play crucial roles in nutrient storage, metabolic processes, and environmental adaptation. These structures enable bacteria to thrive under fluctuating environmental conditions by storing essential resources and optimizing their metabolic efficiency.Carbon Storage: Poly-β-Hydroxybutyric Acid and Glycogen GranulesBacteria frequently store excess carbon in specialized granules. Poly-β-hydroxybutyric acid (PHB) granules are lipid...
50


