Diagnostic Criteria for Huntington's Disease Based on Natural History
Diagnostic Criteria for Huntington's Disease Based on Natural History
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DOI：
10.1002/mds.26011
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发表时间：
2014-09-01
影响因子：
8.6
通讯作者：
Ross, Christopher A.
中科院分区：
文献类型：
--
作者：
Reilmann, Ralf;Leavitt, Blair R.;Ross, Christopher A.
亨廷顿氏病（HD）目前的诊断是基于运动体征的存在，这表明HD的“诊断置信度”为99%。HD自然史和神经生物学的最新进展表明，疾病相关的大脑变化至少在基于运动发作的正式诊断前12至15年开始开始。此外，在根据当前标准做出诊断之前，经常会出现轻微的运动功能障碍、认知变化和行为改变。随着疾病改善治疗的发展，可能需要尽早开始治疗。因此，我们建议扩大HD的诊断标准，以更好地反映疾病的自然史，使临床试验的进行，以预防神经退行性变的预显科目，并促进早期对症治疗。我们提出了一套新的标准，HD诊断类别的国际疾病分类，反映了我们目前的理解HD的自然史和发病机制。基于定义的标准，例如，统一亨廷顿氏病评定量表的诊断置信水平和总功能能力量表，HD应分为“遗传证实”类别，其中亚类别为“前驱”、“前驱”和“明显”，而“未遗传证实”则细分为“临床风险”、“临床前驱”和“临床明显”。2014年国际帕金森和运动障碍协会（International Parkinson and Movement Disorder Society）
Huntington's disease (HD) is currently diagnosed based on the presence of motor signs indicating 99% "diagnostic confidence" for HD. Recent advances in the understanding of HD natural history and neurobiology indicate that disease-related brain changes begin at least 12 to 15 years before the formal diagnosis based on motor onset. Furthermore, subtle motor dysfunction, cognitive changes, and behavioral alterations are often seen before diagnosis made according to the current criteria. As disease-modifying treatments are developed, likely beginning therapy early will be desirable. We therefore suggest that expanded diagnostic criteria for HD should be adapted to better reflect the natural history of the disease, to enable the conduct of clinical trials in premanifest subjects targeting prevention of neurodegeneration, and to facilitate earlier symptomatic treatment. We propose a new set of criteria for HD diagnostic categories in the International Classification of Diseases that reflect our current understanding of HD natural history and pathogenesis. Based on defined criteria, for example, the Diagnostic Confidence Level and the Total Functional Capacity scales of the Unified Huntington's Disease Rating Scale, HD should be divided in the categories "genetically confirmed" with the subcategories "presymptomatic," "prodromal," and "manifest" and "not genetically confirmed" subdivided into "clinically at risk," "clinically prodromal," and "clinically manifest." (C) 2014 International Parkinson and Movement Disorder Society