非常晚发的神经退行症与脑铁积累与轻度胆固醇相关:临床病理病理病例
Jussi O T Sipilä1,2, Aki Hietaharju3,4, Anna Maija Saukkonen1
1Department of Neurology, North Karelia Central Hospital, Joensuu, Finland.
Movement disorders clinical practice
|March 13, 2025
概括
神经退行与大脑铁积累 (NBIA) 可能发生在非常老年的人,呈现轻微的症状. 这一案例突显了晚期发病的NBIA受同时存在的大脑病理的影响.
科学领域:
- 神经学 神经学
- 神经科学是一个神经科学.
- 老年病的医生 老年病的医生
背景情况:
- 神经退行与大脑铁积累 (NBIA) 通常在50岁之前表现出来,通常伴有帕金森症.
- 晚期发作的NBIA是罕见的,其临床表现和病理基础没有得到很好的描述.
研究的目的:
- 报告最早记录的NBIA发病病例.
- 为了研究晚发性NBIA的临床病理特征.
主要方法:
- 一个详细的临床病理病例研究84岁的NBIA女性患者.
- 磁共振成像 (MRI) 用于评估铁沉积.
- 综合的神经病理学分析.
主要成果:
- 这位84岁的患者表现出头部胆形运动和轻度认知障碍,诊断为NBIA.
- 核磁共振扫描显示,基底和子中大量的铁积累;遗传分析没有确定性.
- 神经病理学显示铁的积累,轴突膨胀,和类似于泛酸酶相关的神经退行症 (PKAN) 的特征,以及与年龄相关的病 (PART) 和LATE-NC病理.
结论:
- NBIA可以在很晚的年龄表现为轻微的表型.
- 同时存在的神经病理可能会影响晚发NBIA的表现和进展.
相关概念视频
Parkinson's Disease: Overview
410
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...
410
Alzheimer's Disease: Overview
409
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
409
Neural Regulation
39.0K
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.
39.0K
Lysosomal Hydrolases
3.7K
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,...
3.7K


