肌萎缩侧索硬化
运动神经元
疾病
上运动神经元
神经科学
临床表型
医学
下运动神经元
物理医学与康复
表型
病理
心理学
生物
基因
生物化学
出处
期刊:Continuum
[Ovid Technologies (Wolters Kluwer)]
日期:2017-09-29
卷期号:23 (5): 1332-1359
被引量:60
标识
DOI:10.1212/con.0000000000000535
摘要
ABSTRACT Purpose of Review: This article reviews the clinical features, diagnostic pathway, therapies, and current understanding of the pathophysiology of amyotrophic lateral sclerosis (ALS). The spectrum of motor neuron diseases is reviewed, and the clinical heterogeneity of ALS is described. Recent Findings: ALS is increasingly recognized as a clinical spectrum disorder with pure upper and pure lower motor neuron presentations, supported by genetic links. The phenotypic variability is broad. Identification of ALS-related genes provides insights into disease mechanisms. Summary: ALS is a progressive fatal multisystem neurodegenerative disease primarily affecting motor neurons. Clinical recognition of suspicious symptoms and the appropriate laboratory evaluation are essential to limit diagnostic delay and avoid unnecessary testing and procedures. ALS has broad genetic and hypothesized environmental causes and phenotypic variability. Recognizing related motor neuron diseases will prevent misdiagnosis while allowing proper disease counseling. Although ALS cannot be cured, implementation of appropriate symptomatic treatment is valuable.
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