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肌萎缩侧索硬化症的全面综述。

A comprehensive review of amyotrophic lateral sclerosis.

作者信息

Zarei Sara, Carr Karen, Reiley Luz, Diaz Kelvin, Guerra Orleiquis, Altamirano Pablo Fernandez, Pagani Wilfredo, Lodin Daud, Orozco Gloria, Chinea Angel

机构信息

Department of Medicine, San Juan Bautista School of Medicine, Caguas, USA.

Neurologist, Caribbean Neurological Center, Caguas, USA.

出版信息

Surg Neurol Int. 2015 Nov 16;6:171. doi: 10.4103/2152-7806.169561. eCollection 2015.

DOI:10.4103/2152-7806.169561
PMID:26629397
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4653353/
Abstract

Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease affecting motor neurons with an incidence of about 1/100,000. Most ALS cases are sporadic, but 5-10% of the cases are familial ALS. Both sporadic and familial ALS (FALS) are associated with degeneration of cortical and spinal motor neurons. The etiology of ALS remains unknown. However, mutations of superoxide dismutase 1 have been known as the most common cause of FALS. In this study, we provide a comprehensive review of ALS. We cover all aspects of the disease including epidemiology, comorbidities, environmental risk factor, molecular mechanism, genetic factors, symptoms, diagnostic, treatment, and even the available supplement and management of ALS. This will provide the reader with an advantage of receiving a broad range of information about the disease.

摘要

肌萎缩侧索硬化症(ALS)是一种迟发性致命性神经退行性疾病,影响运动神经元,发病率约为十万分之一。大多数ALS病例为散发性,但5%-10%的病例为家族性ALS。散发性和家族性ALS(FALS)均与皮质和脊髓运动神经元的退化有关。ALS的病因尚不清楚。然而,超氧化物歧化酶1突变是已知的FALS最常见病因。在本研究中,我们对ALS进行了全面综述。我们涵盖了该疾病的各个方面,包括流行病学、合并症、环境危险因素、分子机制、遗传因素、症状、诊断、治疗,甚至ALS的可用补充剂和管理。这将为读者提供获取有关该疾病广泛信息的优势。

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