Faculty of Medicine, University of Porto, Porto, Portugal.
Neurodegener Dis. 2017;17(6):313-322. doi: 10.1159/000481172. Epub 2017 Oct 27.
Huntington's disease (HD) is an incurable, neurodegenerative disease, which manifests via a triad of progressive symptoms: motor impairment, psychiatric disorders, and cognitive decline. Conventionally, the HD diagnosis is based on the presence of involuntary choreiform movements and a positive genetic test for the CAG-expanded allele gene. Although the diagnosis focuses on the motor part of the triad, there is increasing evidence that both cognitive and neuropsychiatric symptoms can, and often do, present decades before the onset of motor symptoms. In this paper, we review the evidence regarding the symptoms in the HD premotor phase and summarize the most relevant and robust studies in the last few years. Regarding neuropsychiatric symptoms, higher levels of depression, anxiety, apathy, irritability, psychosis, disinhibition, hostility, and sleeping problems were found. In terms of cognition, there was impairment in attention, working memory, episodic memory, language, recognition of facial emotions, empathy, and theory of mind. These early symptoms of HD can be very debilitating and are often disregarded by doctors. It is necessary to acknowledge them so that they can be treated or alleviated. Moreover, an earlier diagnosis can lead to the implementation of neurodegenerative prevention therapies, which may slow the progression of the disease and prolong overall functioning. This will improve the patient's independence and their quality of life.
亨廷顿病（HD）是一种无法治愈的神经退行性疾病，其表现为三联征：运动障碍、精神障碍和认知能力下降。传统上，HD 的诊断基于不自主舞蹈样运动的存在和 CAG 扩展等位基因的阳性基因检测。尽管诊断侧重于三联征的运动部分，但越来越多的证据表明，认知和神经精神症状可能会而且经常会在运动症状出现前几十年出现。在本文中，我们回顾了 HD 运动前期症状的证据，并总结了过去几年中最相关和最有力的研究。关于神经精神症状，发现抑郁、焦虑、冷漠、易怒、精神病、抑制障碍、敌意和睡眠问题的水平较高。在认知方面，注意力、工作记忆、情景记忆、语言、面部情绪识别、同理心和心理理论受损。这些 HD 的早期症状可能非常虚弱，并且经常被医生忽视。有必要承认这些症状，以便进行治疗或缓解。此外，早期诊断可以导致实施神经退行性疾病预防治疗，这可能会减缓疾病的进展并延长整体功能。这将提高患者的独立性和生活质量。
