肌萎缩侧索硬化症 4
基因病名称(英)
Amyotrophic lateral sclerosis 4
关键字(英)
Amyotrophic lateral sclerosis
别名(英)
Amyotrophic lateral sclerosis juvenile 4,Neuronopathy distal hereditary motor with pyramidal features
别名
青少年肌萎缩侧索硬化症 4，神经元病 远端遗传性运动伴锥体特征
统计
reviewed:1; annotated:0
交叉引用
602433,C1865409,D000690
描述(英)
A form of amyotrophic lateral sclerosis with childhood- or adolescent- onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
描述
一种在儿童期或青少年期发病的肌萎缩侧索硬化症，其特点是疾病进展缓慢，延髓和呼吸肌不受影响。肌萎缩侧索硬化症是一种神经退行性疾病，影响大脑中的上运动神经元以及脑干和脊髓中的下运动神经元，导致致命的瘫痪。没有感觉异常。该疾病的病理特征包括由于运动神经元丧失导致的皮质脊髓束苍白、存活的运动神经元内存在泛素阳性包涵体以及病理性聚集物的沉积。肌萎缩侧索硬化症的病因可能是多因素的，包括遗传和环境因素。该疾病在 5-10% 的病例中遗传。