家族性肌萎缩侧索硬化症
Familial Amyotrophic Lateral Sclerosis.
作者信息
Boylan Kevin
机构信息
Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
出版信息
Neurol Clin. 2015 Nov;33(4):807-30. doi: 10.1016/j.ncl.2015.07.001. Epub 2015 Sep 8.
Abstract
Genes linked to amyotrophic lateral sclerosis (ALS) susceptibility are being identified at an increasing rate owing to advances in molecular genetic technology. Genetic mechanisms in ALS pathogenesis seem to exert major effects in about 10% of patients, but genetic factors at some level may be important components of disease risk in most patients with ALS. Identification of gene variants associated with ALS has informed concepts of the pathogenesis of ALS, aided the identification of therapeutic targets, facilitated research to develop new ALS biomarkers, and supported the establishment of clinical diagnostic tests for ALS-linked genes.
摘要
由于分子遗传技术的进步，与肌萎缩侧索硬化症（ALS）易感性相关的基因正以越来越快的速度被识别出来。ALS发病机制中的遗传机制似乎在约10%的患者中发挥主要作用，但在大多数ALS患者中，某种程度上的遗传因素可能是疾病风险的重要组成部分。与ALS相关的基因变异的识别为ALS的发病机制提供了思路，有助于确定治疗靶点，促进了新型ALS生物标志物的研发，并支持了针对与ALS相关基因的临床诊断测试的建立。
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