Motor abnormalities in premanifest persons with Huntington's disease: the PREDICT-HD study.
Motor abnormalities in premanifest persons with Huntington's disease: the PREDICT-HD study.
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DOI：
10.1002/mds.22601
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发表时间：
2009-09-15
影响因子：
8.6
通讯作者：
Paulsen, Jane S.
中科院分区：
文献类型：
--
作者：
Biglan, Kevin M.;Ross, Christopher A.;Langbehn, Douglas R.;Aylward, Elizabeth H.;Stout, Julie C.;Queller, Sarah;Carlozzi, Noelle E.;Duff, Kevin;Beglinger, Leigh J.;Paulsen, Jane S.
这项预测-HD研究试图确定亨廷顿病的临床和生物标记物，这些标记物存在于接受了预测性基因测试的先证者身上。我们使用T检验和卡方检验比较了基因扩增携带者(病例)和非基因扩增携带者(对照)的基线运动数据。使用基于CAG的公式将病例分类为距离诊断近、中或远。用体积磁共振测量计算纹状体体积。多元线性回归将总运动评分、运动领域和单个运动项目与估计的诊断和纹状体体积相关联。基线时总运动评分的升高与在不久的将来进行疾病诊断的遗传概率较高(部分R2 0.14，p<；0.0001)和较小的纹状体体积(部分R2 0.15，p<；0.0001)相关。尽管运动迟缓和舞蹈症与诊断的即时性最相关，但几乎所有的运动域评分都显示出更大的异常，与诊断的接近程度越高。在单独的运动项目中，手指敲击、串联步态、Luria、眼跳启动和舞蹈症的得分较差显示出与诊断概率的独特关联。即使在这一先兆人群中，细微的运动异常也与较高的疾病诊断概率和较小的纹状体体积相关。纵向评估将有助于了解运动项目在预防性临床试验中是否将是有用的措施。
The PREDICT-HD study seeks to identify clinical and biological markers of Huntington’s disease in premanifest individuals who have undergone predictive genetic testing. We compared baseline motor data between gene-expansion carriers (cases) and non gene-expansion carriers (controls) using T-tests and Chi-Square. Cases were categorized as near, mid or far from diagnosis using a CAG-based formula. Striatal volumes were calculated using volumetric MRI measurements. Multiple linear regression associated total motor score, motor domains and individual motor items with estimated diagnosis and striatal volumes. Elevated total motor scores at baseline were associated with higher genetic probability of disease diagnosis in the near future (partial R2 0.14, p<0.0001) and smaller striatal volumes (partial R2 0.15, p<0.0001). Nearly all motor domain scores showed greater abnormality with increasing proximity to diagnosis, although bradykinesia and chorea were most highly associated with diagnostic immediacy. Among individual motor items, worse scores on finger tapping, tandem gait, Luria, saccade initiation, and chorea show unique association with diagnosis probability. Even in this premanifest population subtle motor abnormalities were associated with a higher probability of disease diagnosis and smaller striatal volumes. Longitudinal assessment will help inform whether motor items will be useful measures in preventive clinical trials.
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影响因子：
--
作者：
Aylward, EH;Codori, AM;Brandt, J
通讯作者：
Brandt, J
影响因子：
11
作者：
Kipps, CM;Duggins, AJ;McCusker, EA
通讯作者：
McCusker, EA
影响因子：
--
作者：
Kirkwood, SC;Siemers, E;Foroud, T
通讯作者：
Foroud, T
影响因子：
3.5
作者：
Langbehn, DR;Brinkman, RR;Hayden, MR
通讯作者：
Hayden, MR
影响因子：
5.7
作者：
Magnotta, VA;Harris, G;Heckel, D
通讯作者：
Heckel, D