Rosenblatt A, Liang K-Y, Zhou H, Abbott M H, Gourley L M, Margolis R L, Brandt J, Ross C A
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Neurology. 2006 Apr 11;66(7):1016-20. doi: 10.1212/01.wnl.0000204230.16619.d9.
To determine whether the rate of clinical progression in Huntington disease (HD) is influenced by the size of the CAG expansion.
The dataset consisted of 3,402 examinations of 512 subjects seen through the Baltimore Huntington's Disease Center. Subjects were seen for a mean of 6.64 visits, with mean follow-up of 6.74 years. Subjects were administered the Quantified Neurological Examination, with its subsets the Motor Impairment and Chorea Scores, the Mini-Mental State Examination, and the HD Activities of Daily Living (ADL) Scale.
In an analysis based on the Random Effects Model, CAG length was significantly associated with the rate of progression of all measures except chorea and ADL. There was a significant interaction term between CAG length and disease duration for all measures except chorea. Further graphical exploration of the data supported these linear models and suggested that subjects at the low end of the expanded CAG repeat range may experience a more benign late course.
CAG repeat length has a small effect on rate of progression that may be clinically important over time. Individuals with the shortest expansions appear to have the best prognosis. These effects of the CAG length may be relevant in the analysis of clinical trials.
确定亨廷顿舞蹈病（HD）的临床进展速度是否受CAG重复序列扩展长度的影响。
数据集包含巴尔的摩亨廷顿舞蹈病中心对512名受试者进行的3402次检查。受试者平均接受6.64次检查，平均随访6.74年。对受试者进行了量化神经学检查，包括运动障碍和舞蹈症评分、简易精神状态检查以及HD日常生活活动（ADL）量表。
在基于随机效应模型的分析中，除舞蹈症和ADL外，CAG长度与所有测量指标的进展速度均显著相关。除舞蹈症外，所有测量指标的CAG长度与病程之间均存在显著的交互项。对数据的进一步图形探索支持了这些线性模型，并表明CAG重复序列扩展范围低端的受试者可能经历更良性的晚期病程。
CAG重复长度对进展速度有较小影响，随着时间推移可能具有临床重要性。CAG重复序列扩展最短的个体预后似乎最佳。CAG长度的这些影响可能与临床试验分析相关。
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