Beckmann Heike, Bohlen Stefan, Saft Carsten, Hoffmann Rainer, Gerss Joachim, Muratori Lisa, Ringelstein E Bernd, Landwehrmeyer G Bernhard, Reilmann Ralf
Department of Neurology, University of Münster, Albert-Schweitzer Campus 1, 48149 Münster, Germany; George-Huntington-Institute, Deilmann-Building IV, Technology-Park, Johann-Krane Weg 27, 48149 Münster, Germany.
Department of Neurology, University of Münster, Albert-Schweitzer Campus 1, 48149 Münster, Germany; George-Huntington-Institute, Deilmann-Building IV, Technology-Park, Johann-Krane Weg 27, 48149 Münster, Germany; Institute for Clinical Radiology, University of Münster, Albert-Schweitzer Campus 1, 48149 Münster, Germany.
Gait Posture. 2018 May;62:451-457. doi: 10.1016/j.gaitpost.2018.03.039. Epub 2018 Apr 7.
Deficits in posture and gait are known to contribute to the complex motor phenotype of Huntington disease (HD). Objective and quantitative measures of posture and gait provided by posturography and GAITRite assessments may supplement categorical rating scales such as the UHDRS-TMS and increase power and sensitivity of clinical trials.
To investigate whether posturography and GAITRite measures reveal (1) changes in manifest or premanifest HD mutation-carriers, (2) a correlation to the UHDRS-TMS and functional measures in manifest HD, and (3) a correlation to the disease-burden-score (based on CAG-repeat-length and age).
Posturography and GAITRite were applied in premanifest (n = 26) and manifest HD gene-mutation-carriers (n = 40) in different paradigms compared to age-matched controls (n = 30) in a cross-sectional multi-site study conducted in three centers. Subjects were assessed clinically with the UHDRS Total-Motor-Score, Total-Functional-Capacity and Functional-Assessment-Scale.
Several posturography measures were able to discriminate between controls, premanifest, and manifest mutation-carriers in both conditions assessed. Only one GAITRite measure separated controls and premanifest participants, while discrimination between controls and manifest same as between premanifest and manifest participants was possible in several measures. Correlation with all clinical measures was seen in only one measure per device while correlations to the disease-burden-score seen in posturography only.
Overall the results suggests that posturography detects alterations in premanifest and manifest mutation-carriers more reliably than GAITRite measures. Correlations with clinical assessment scores are limited; correlation with disease-burden-score is seen in posturography only. Data acquisition and analysis was easier with posturography than GAITRite assessments in out-patient settings.
姿势和步态缺陷已知会导致亨廷顿舞蹈病（HD）复杂的运动表型。姿势描记法和GAITRite评估提供的客观且定量的姿势和步态测量可能会补充诸如统一亨廷顿舞蹈病评定量表-运动部分（UHDRS-TMS）等分类评定量表，并提高临床试验的效能和敏感性。
研究姿势描记法和GAITRite测量是否能揭示（1）显性或症状前HD突变携带者的变化，（2）与显性HD中UHDRS-TMS及功能测量的相关性，以及（3）与疾病负担评分（基于CAG重复长度和年龄）的相关性。
在一项由三个中心开展的横断面多中心研究中，将姿势描记法和GAITRite应用于症状前（n = 26）和显性HD基因突变携带者（n = 40），并与年龄匹配的对照组（n = 30）进行不同模式的比较。采用UHDRS总运动评分、总功能能力和功能评估量表对受试者进行临床评估。
在两种评估条件下，几种姿势描记法测量能够区分对照组、症状前和显性突变携带者。只有一项GAITRite测量能区分对照组和症状前参与者，而在几项测量中，对照组与显性参与者之间以及症状前与显性参与者之间的区分是可能的。每个设备仅在一项测量中观察到与所有临床测量的相关性，而仅在姿势描记法中观察到与疾病负担评分的相关性。
总体而言，结果表明姿势描记法比GAITRite测量更可靠地检测出症状前和显性突变携带者的改变。与临床评估评分的相关性有限；仅在姿势描记法中观察到与疾病负担评分的相关性。在门诊环境中，姿势描记法的数据采集和分析比GAITRite评估更容易。
