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Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases
Brain ( IF 10.6 ) Pub Date : 2021-10-22 , DOI: 10.1093/brain/awab404
Michael Benatar 1 , Joanne Wuu 1 , Caroline McHutchison 2, 3 , Ronald B Postuma 4 , Bradley F Boeve 5 , Ronald Petersen 5 , Christopher A Ross 6, 7, 8, 9 , Howard Rosen 10 , Jalayne J Arias 10 , Stephanie Fradette 11 , Michael P McDermott 12, 13 , Jeremy Shefner 14 , Christine Stanislaw 15 , Sharon Abrahams 2, 3 , Stephanie Cosentino 16 , Peter M Andersen 17 , Richard S Finkel 18 , Volkan Granit 1 , Anne-Laure Grignon 1 , Jonathan D Rohrer 19 , Corey T McMillan 20 , Murray Grossman 20 , Ammar Al-Chalabi 21, 22 , Martin R Turner 23 ,
Affiliation  

Significant progress has been made in understanding the pre-symptomatic phase of amyotrophic lateral sclerosis (ALS). While much is still unknown, advances in other neurodegenerative diseases offer valuable insights. Indeed, it is increasingly clear that the well-recognized clinical syndromes of Alzheimer’s disease (AD), Parkinson’s disease (PD), Huntington’s disease (HD), spinal muscular atrophy, and frontotemporal dementia are also each preceded by a pre-symptomatic or prodromal period of varying duration, during which the underlying disease process unfolds, with associated compensatory changes and loss of inherent system redundancy. Key insights from these diseases highlight opportunities for discovery in ALS. The development of biomarkers reflecting amyloid and tau has led to a shift in defining AD based on inferred underlying histopathology. PD is unique among neurodegenerative diseases in the number and diversity of non-genetic biomarkers of pre-symptomatic disease, most notably REM-sleep behavior disorder. HD benefits from an ability to predict the likely timing of clinically manifest disease based on age and CAG-repeat length alongside reliable neuroimaging markers of atrophy. SMA clinical trials have highlighted the transformational value of early therapeutic intervention, and studies in FTD illustrate the differential role of biomarkers based on genotype. Similar advances in ALS would transform our understanding of key events in pathogenesis, thereby dramatically accelerating progress towards disease prevention.

中文翻译:

预防肌萎缩侧索硬化:症状前神经退行性疾病的见解

在了解肌萎缩侧索硬化症 (ALS) 的症状前阶段方面取得了重大进展。虽然还有很多未知数,但其他神经退行性疾病的进展提供了宝贵的见解。事实上,越来越清楚的是,阿尔茨海默病 (AD)、帕金森病 (PD)、亨廷顿舞蹈病 (HD)、脊髓性肌萎缩症和额颞叶痴呆等公认的临床综合征之前也都有症状前或前驱症状持续时间不同的时期,在此期间,潜在的疾病过程展开,伴随着相关的代偿性变化和固有系统冗余的丧失。这些疾病的关键见解突出了发现 ALS 的机会。反映淀粉样蛋白和 tau 的生物标志物的发展导致基于推断的潜在组织病理学定义 AD 的转变。PD 在症状前疾病的非遗传生物标志物的数量和多样性方面在神经退行性疾病中是独一无二的,最显着的是 REM 睡眠行为障碍。HD 受益于根据年龄和 CAG 重复长度以及可靠的萎缩神经影像学标记预测临床表现疾病的可能时间的能力。SMA 临床试验突出了早期治疗干预的转化价值,FTD 研究说明了基于基因型的生物标志物的不同作用。ALS 的类似进展将改变我们对发病机制中关键事件的理解,从而大大加快疾病预防的进展。HD 受益于根据年龄和 CAG 重复长度以及可靠的萎缩神经影像学标记预测临床表现疾病的可能时间的能力。SMA 临床试验突出了早期治疗干预的转化价值,FTD 研究说明了基于基因型的生物标志物的不同作用。ALS 的类似进展将改变我们对发病机制中关键事件的理解,从而大大加快疾病预防的进展。HD 受益于根据年龄和 CAG 重复长度以及可靠的萎缩神经影像学标记预测临床表现疾病的可能时间的能力。SMA 临床试验突出了早期治疗干预的转化价值,FTD 研究说明了基于基因型的生物标志物的不同作用。ALS 的类似进展将改变我们对发病机制中关键事件的理解,从而大大加快疾病预防的进展。FTD 的研究说明了基于基因型的生物标志物的不同作用。ALS 的类似进展将改变我们对发病机制中关键事件的理解,从而大大加快疾病预防的进展。FTD 的研究说明了基于基因型的生物标志物的不同作用。ALS 的类似进展将改变我们对发病机制中关键事件的理解,从而大大加快疾病预防的进展。
更新日期:2021-10-22
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