亨廷顿病运动表型转化的无意识。
Unawareness of motor phenoconversion in Huntington disease.
机构信息
From the Neurology Department (E.A.M., D.G.G., C.T.L., K.R., J.G.), Westmead Hospital, Sydney; Sydney Medical School (E.A.M., C.T.L.), University of Sydney, Australia; and Department of Psychiatry (E.A.E., J.A.M., J.D.L, J.S.P.), University of Iowa, Iowa City.
出版信息
Neurology. 2013 Sep 24;81(13):1141-7. doi: 10.1212/WNL.0b013e3182a55f05. Epub 2013 Aug 21.
OBJECTIVE
To determine whether Huntington disease (HD) mutation carriers have motor symptoms (complaints) when definite motor onset (motor phenoconversion) is diagnosed and document differences between the groups with and without unawareness of motor signs.
METHODS
We analyzed data from 550 HD mutation carriers participating in the multicenter PREDICT-HD Study followed through the HD prodrome. Data analysis included demographics, the Unified Huntington's Disease Rating Scale (UHDRS) and the Participant HD History of symptoms, self-report of progression, and cognitive, behavioral, and imaging measures. Unawareness was identified when no motor symptoms were self-reported but when definite motor HD was diagnosed.
RESULTS
Of 38 (6.91%) with onset of motor HD, almost half (18/38 = 47.36%) had no motor symptoms despite signs of disease on the UHDRS motor rating and consistent with unawareness. A group with motor symptoms and signs was similar on a range of measures to the unaware group. Those with unawareness of HD signs reported less depression. Patients with symptoms had more striatal atrophy on imaging measures.
CONCLUSIONS
Only half of the patients with newly diagnosed motor HD had motor symptoms. Unaware patients were less likely to be depressed. Self-report of symptoms may be inaccurate in HD at the earliest stage.
目的
确定亨廷顿病（HD）突变携带者在明确的运动起始（运动表型转化）时是否出现运动症状（主诉），并记录有无运动迹象意识障碍的组间差异。
方法
我们分析了参加多中心 PREDICT-HD 研究并通过 HD 前驱期的 550 名 HD 突变携带者的数据。数据分析包括人口统计学、统一亨廷顿病评定量表（UHDRS）以及参与者的症状史、自我报告的进展、认知、行为和影像学测量。当无运动症状自我报告，但明确诊断为运动性 HD 时，则认为存在无症状。
结果
在 38 名（6.91%）出现运动性 HD 的患者中，尽管 UHDRS 运动评分存在疾病迹象且与无症状一致，但近一半（18/38 = 47.36%）无运动症状。有运动症状和体征的组在一系列测量指标上与无症状组相似。无症状组报告的抑郁症状较少。有症状的患者在影像学测量中基底节萎缩更明显。
结论
只有一半的新发运动性 HD 患者有运动症状。无症状患者的抑郁可能性较小。在 HD 的最早阶段，症状的自我报告可能不准确。
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