Objective: To assess the prevalence, timing and functional impact of psychiatric, cognitive and motor abnormalities in Huntington's disease (HD) gene carriers, we analysed retrospective clinical data from individuals with manifest HD. Methods: Clinical features of HD patients were analysed for 6316 individuals in the European REGISTRY study from 161 sites across 17 countries. Data came from clinical history and the patient-completed Clinical Characteristics Questionnaire that assessed eight symptoms: motor, cognitive, apathy, depression, perseverative/obsessive behavior, irritability, violent/aggressive behavior, and psychosis. Multiple logistic regression was used to analyse relationships between symptoms and functional outcomes. Results: The initial manifestation of HD is increasingly likely to be motor, and less likely to be psychiatric, as age at presentation increases, and is independent of pathogenic CAG repeat length. The Clinical Characteristics Questionnaire captures data on non-motor symptom prevalence that correlate specifically with validated clinical measures. Psychiatric and cognitive symptoms are common in HD gene carriers, with earlier onsets associated with longer CAG repeats. 42.4% of HD patients reported at least one psychiatric or cognitive symptom before motor symptoms, with depression most common. Each non-motor symptom was associated with significantly reduced total functional capacity scores. Conclusions: Psychiatric and cognitive symptoms are common and functionally debilitating in HD gene carriers. They require recognition and targeting with clinical outcome measures and treatments. However, as it is impossible to distinguish confidently between non-motor symptoms arising from HD and primary psychiatric disorders, particularly in younger pre-manifest patients, non-motor symptoms should not be used to make a clinical diagnosis of HD.

中文翻译：

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亨廷顿舞蹈病的精神病，认知和运动异常的时机和影响

目的：为了评估亨廷顿舞蹈病（HD）基因携带者的精神，认知和运动异常的患病率，时间和功能影响，我们分析了具有明显HD的个体的回顾性临床数据。方法：在欧洲注册研究中，对来自17个国家/地区的161个站点的6316例HD患者的临床特征进行了分析。数据来自临床病史和患者完成的《临床特征问卷》，该问卷评估了八种症状：运动，认知，冷漠，抑郁，持续性/强迫行为，易怒，暴力/攻击性行为和精神病。使用多元逻辑回归分析症状与功能结局之间的关系。结果：HD的最初表现是越来越可能是运动的，而不太可能是精神病的，随着出现时年龄的增加，并且与致病性CAG重复长度无关。临床特征调查表可收集非运动症状患病率的数据，这些数据与经过验证的临床措施特别相关。精神病和认知症状在高清基因携带者中很常见，较早的发作与较长的CAG重复有关。42.4％的HD患者在运动症状之前报告至少一种精神或认知症状，其中抑郁症最常见。每种非运动症状与总功能能力评分显着降低有关。结论：精神病和认知症状在HD基因携带者中很常见，并且会使人的功能衰弱。他们需要通过临床结果测量和治疗来识别和确定目标。然而，