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向肌萎缩侧索硬化症的预测性和个性化临床方法迈进:诊断、遗传学、发病机制和治疗方面的新进展和未来方向。

Moving toward a predictive and personalized clinical approach in amyotrophic lateral sclerosis: novel developments and future directions in diagnosis, genetics, pathogenesis and therapies.

机构信息

Neuromuscular Service, Department of Neurology, Tel-Aviv Sourasky Medical Center, 6, Weizmann st, 64239 Tel-Aviv, Israel ; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

出版信息

EPMA J. 2010 Jun;1(2):329-41. doi: 10.1007/s13167-010-0027-0. Epub 2010 Jun 9.

DOI:10.1007/s13167-010-0027-0
PMID:23199068
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3405327/
Abstract

Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease that affects upper and lower motor neurons in the brain and spinal cord, with progressive weakness and atrophy of most muscles in the body and is almost always fatal within 3-5 years. A small proportion of cases are familial, and remarkable achievements have been made during the last years in understanding the genetics of the disease. In spite of this, the basic pathogenic mechanisms underlying the sporadic disease are still poorly understood. There is urgent need for better understanding of the pathogenic processes in order to be able to develop effective treatments. The present review will focus on recent knowledge gained in diagnosis, genetics, pathogenesis and therapies in ALS. Future development of diagnostic technologies integrating genetic, environmental and individual information will enable us to predict a population at risk for ALS. New treatments actually in development will help improve the medical management of ALS patients, taking into consideration individual traits, as genetic background, and pave a way for a more effective personalized diagnostic and treatment approach.

摘要

肌萎缩侧索硬化症(ALS)是一种罕见的神经退行性疾病,影响大脑和脊髓中的上下运动神经元,导致身体大部分肌肉进行性无力和萎缩,几乎总是在 3-5 年内致命。一小部分病例是家族性的,在过去几年中,对疾病的遗传学有了显著的认识。尽管如此,散发性疾病的基本发病机制仍知之甚少。迫切需要更好地了解发病过程,以便能够开发有效的治疗方法。本综述将重点介绍 ALS 在诊断、遗传学、发病机制和治疗方面的最新知识。整合遗传、环境和个体信息的诊断技术的未来发展将使我们能够预测 ALS 的高危人群。新的治疗方法实际上正在开发中,将有助于改善 ALS 患者的医疗管理,考虑到个体特征,如遗传背景,并为更有效的个性化诊断和治疗方法铺平道路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/370d/3405327/85ec01ac3d66/13167_2010_27_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/370d/3405327/a959f7cc4eb2/13167_2010_27_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/370d/3405327/85ec01ac3d66/13167_2010_27_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/370d/3405327/a959f7cc4eb2/13167_2010_27_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/370d/3405327/85ec01ac3d66/13167_2010_27_Fig2_HTML.jpg

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