理解多系统萎缩——遗传学可以引领方向吗?

Miriam Sklerov, C. Waters
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引用次数: 0

摘要

多发性系统萎缩(MSA)是一种进行性、成人发病的神经退行性疾病,以帕金森病、小脑性共济失调、自主神经衰竭和皮质脊髓束功能障碍为特征。它被认为是一种罕见的疾病,在频率上类似于更知名的神经退行性疾病肌萎缩性侧索硬化症或卢伽雷氏病。虽然MSA传统上不被认为是一种遗传性疾病,但新的证据正在出现,支持许多患者存在一些遗传易感性。在这篇简短的综述中,我们将讨论MSA遗传学知识的进展,以及这如何进一步加深我们对该疾病病理生理学的理解。关于这种疾病仍有很多未知,但最近在MSA遗传学方面取得的一些进展可能为了解该病的发病机制和治疗提供重要线索。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Understanding Multiple System Atrophy—Could Genetics Lead the Way?
M ultiple system atrophy (MSA) is a progressive, adult-onset, neurodegenerative disorder characterized by parkinsonism, cerebellar ataxia, autonomic failure, and corticospinal tract dysfunction. It is considered a rare disease, similar in frequency to the more well-known neurodegenerative disease amyotrophic lateral sclerosis or Lou Gehrig’s disease. Though MSA has not traditionally been considered a genetic disease, new evidence is emerging supporting some genetic predisposition in many patients. In this short review, we will discuss advances in the knowledge of genetics in MSA and how this has furthered our understanding of the pathophysiology of the disease. There is still much unknown about this disease, but some of the recent advances made in MSA genetics may give important clues to understanding the pathogenesis and treatment of this disease.
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