Age, CAG repeat length, and clinical progression in Huntington's disease
Age, CAG repeat length, and clinical progression in Huntington's disease
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DOI：
10.1002/mds.24024
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发表时间：
2012-02-01
影响因子：
8.6
通讯作者：
Ross, Christopher A.
中科院分区：
文献类型：
--
作者：
Rosenblatt, Adam;Kumar, Brahma V.;Ross, Christopher A.
本研究的目的是进一步探讨CAG重复长度对亨廷顿病患者临床进展率的影响。数据集包括巴尔的摩亨廷顿疾病中心前瞻性跟踪的569名受试者的记录。参与者的平均访问次数为7.1次，平均随访时间为8.2年。采用量化神经学检查及其运动障碍子量表、简易精神状态检查和亨廷顿病日常生活能力量表对受试者进行评定。就其本身而言，CAG重复长度对所有临床指标的进展有统计学意义，但影响很小。与我们之前的预期相反，控制发病年龄后，CAG重复长度与所有变量进展之间的相关性增加了69%至159%。图形模型进一步支持了这一观点，即三胞胎扩张较小的个体经历了更渐进的下降。在考虑发病年龄时，CAG重复长度成为临床预后的重要决定因素。这表明衰老过程本身会影响亨廷顿病的临床结果。先前检查CAG重复长度和进展的研究结果不一致，可能确实反映了缺乏年龄调整。(C)2011年运动无序社
The objective of this study was to further explore the effect of CAG repeat length on the rate of clinical progression in patients with Huntington's disease. The dataset included records for 569 subjects followed prospectively at the Baltimore Huntington's Disease Center. Participants were seen for a mean of 7.1 visits, with a mean follow-up of 8.2 years. Subjects were evaluated using the Quantified Neurologic Examination and its Motor Impairment subscale, the Mini-Mental State Examination, and the Huntington's disease Activities of Daily Living Scale. By itself, CAG repeat length showed a statistically significant but small effect on the progression of all clinical measures. Contrary to our previous expectations, controlling for age of onset increased the correlation between CAG repeat length and progression of all variables by 69% to 159%. Graphical models further supported the idea that individuals with smaller triplet expansions experience a more gradual decline. CAG repeat length becomes an important determinant of clinical prognosis when accounting for age of onset. This suggests that the aging process itself influences clinical outcomes in Huntington's disease. Inconsistent results in prior studies examining CAG repeat length and progression may indeed reflect a lack of age adjustment. (C) 2011 Movement Disorder Society