Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Department of Psychology, University of Copenhagen, Copenhagen, Denmark.
Cogn Behav Neurol. 2021 Dec 2;34(4):295-302. doi: 10.1097/WNN.0000000000000286.
Apathy is a prevalent behavioral syndrome of Huntington disease (HD) that can result in severe loss of function for the individual with HD and substantial caregiver distress. Research-based evidence of apathy is characterized by methodological differences, and there is a deficiency in the evidence concerning the subtypes of apathy.
To characterize apathy in premanifest and motor-manifest HD gene expansion carriers and controls using the Short Problem Behaviors Assessment for Huntington's Disease (PBA-s) and the Lille Apathy Rating Scale (LARS).
We included 82 HD gene expansion carriers (premanifest and motor manifest) and 32 controls (Mini-Mental State Examination score ≥24 and Montreal Cognitive Assessment score ≥19) in the study. We quantified apathy using the PBA-s and the LARS and performed correlation analyses between the global LARS score and motor function, cytosine-adenine-guanine repeat length, cytosine-adenine-guanine Age Product score, and neuropsychiatric and cognitive symptoms.
The motor-manifest HD gene expansion carriers scored significantly higher than the controls on the global score and the Intellectual Curiosity and Action Initiation subscales of the LARS. Apathy was present in 28% of the HD gene expansion carriers (including 7 premanifest). The apathetic participants had a significantly higher motor score, significantly higher scores on the neuropsychiatric instruments, and significantly lower cognitive scores compared with the controls.
Apathy is a frequent syndrome that is found in individuals with HD. Apathy has a specific expression, with symptoms such as reduced initiation, voluntary actions, and interests, that might be related to the underlying neuropathology. Apathy is related to disease progression, neuropsychiatric symptoms, and cognitive impairments.
冷漠是亨廷顿病（HD）常见的行为综合征，可导致 HD 个体严重丧失功能，以及照护者承受巨大痛苦。基于研究的冷漠证据存在方法学差异，而且在冷漠亚型方面的证据不足。
使用亨廷顿病短版问题行为评估量表（PBA-s）和里尔冷漠评定量表（LARS），描述无症状和运动前期 HD 基因扩展携带者及对照者的冷漠表现。
我们纳入 82 例 HD 基因扩展携带者（无症状和运动前期）和 32 例对照者（简易精神状态检查评分≥24 分，蒙特利尔认知评估评分≥19 分）。我们使用 PBA-s 和 LARS 来量化冷漠，并对 LARS 总分与运动功能、胞嘧啶-腺嘌呤-鸟嘌呤重复序列长度、胞嘧啶-腺嘌呤-鸟嘌呤年龄乘积评分以及神经精神和认知症状之间进行相关性分析。
运动前期 HD 基因扩展携带者的 LARS 总分和智力好奇心及行动启动分量表得分显著高于对照组。28%的 HD 基因扩展携带者（包括 7 名无症状者）存在冷漠。与对照组相比，冷漠的参与者的运动评分显著更高，神经精神工具评分显著更高，认知评分显著更低。
冷漠是一种常见的综合征，在 HD 个体中较为常见。冷漠有特定的表现，如减少主动性、自发性行动和兴趣，这可能与潜在的神经病理学有关。冷漠与疾病进展、神经精神症状和认知障碍有关。
