Snowden Julie S
Greater Manchester Neuroscience Centre, Salford Royal NHS Trust, Salford, UK.
Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Arch Clin Neuropsychol. 2017 Nov 1;32(7):876-887. doi: 10.1093/arclin/acx086.
Huntington's disease is an inherited, degenerative brain disease, characterized by involuntary movements, cognitive disorder and neuropsychiatric change. Men and women are affected equally. Symptoms emerge at around 40 years, although there is wide variation. A rare juvenile form has onset in childhood or adolescence. The evolution of disease is insidious and structural and functional brain changes may be present more than a decade before symptoms and signs become manifest. The earliest site of pathology is the striatum and neuroimaging measures of striatal change correlate with neurological and cognitive markers of disease. Chorea and other aspects of the movement disorder are the most visible aspect of the disease. However, non-motor features have greatest affect on functional independence and quality of life, so require recognition and management. The evidence-base for non-pharmacological treatments in Huntington's disease is currently limited, but recent intervention studies are encouraging.
亨廷顿舞蹈症是一种遗传性退行性脑病，其特征为不自主运动、认知障碍和神经精神变化。男性和女性受影响的程度相同。症状通常在40岁左右出现，不过存在很大差异。一种罕见的青少年型在儿童期或青春期发病。疾病进展隐匿，在症状和体征出现之前十多年，大脑可能就已存在结构和功能变化。最早的病理部位是纹状体，纹状体变化的神经影像学测量结果与疾病的神经学和认知标志物相关。舞蹈症和运动障碍的其他方面是该疾病最明显的表现。然而，非运动特征对功能独立性和生活质量影响最大，因此需要识别和管理。目前，亨廷顿舞蹈症非药物治疗的循证依据有限，但近期的干预研究令人鼓舞。
