亨廷顿舞蹈病:独特的问题还是其他退行性神经系统疾病的类似影响?

Steve Smith
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版权所有:©2017 Smith S.这是一篇根据知识共享署名许可条款发布的开放获取文章,允许在任何媒体上不受限制地使用、分发和复制,前提是注明原作者和来源。亨廷顿氏病(HD)在许多方面与其他进行性神经系统疾病(如阿尔茨海默病(AD))截然不同。例如,HD是一种显性遗传特征,患病父母的孩子在中年时出现症状的风险为50%[1],而AD的病因是多因素的[2]。60岁时首次出现HD症状被认为是“晚发性”[3],而65岁之前出现AD症状则被认为是“早发性AD”[4]。与HD相关的舞蹈运动障碍、精神问题和认知能力下降是被称为“HD体征和症状的独特星座”的显著特征[5]。Dorey等人认为,当试图使用通用的生活质量仪器测量HD患者的生活质量时,无法捕捉到这些HD特征,并认为这支持了对HD疾病专用工具的需求。
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Huntington's Disease: Unique Problems or Similar Impact to Other Degenerative Neurological Disorders?
Copyright: © 2017 Smith S. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Huntington’s disease (HD) is strikingly different from other progressive neurological disorders such as Alzheimer’s disease (AD) in many ways. For example, HD is inherited as a dominant genetic trait, with children of affected parents being at 50% risk of developing symptoms in their own midlife [1] whereas the etiology of AD is multifactorial [2]. First manifestation of HD symptoms at the age of 60 years is regarded as ‘late onset’ [3] while AD symptoms occurring prior to 65 years of age identifies ‘Early onset AD’ [4]. The choreic movement disorder, psychiatric problems and cognitive decline associated with HD are among the distinguishing features referred to as the ‘unique constellation of HD signs and symptoms’ [5]. Dorey et al. suggest that these HD features cannot be captured when attempting to measure quality of life in people with HD using a generic quality of life instrument, and suggested this supported the need for a HD diseasespecific tool.
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