Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.
HDSA Center of Excellence, The University of Texas Health Science Center at Houston,, Houston, TX, USA.
J Huntingtons Dis. 2021;10(4):413-422. doi: 10.3233/JHD-210497.
Olfactory dysfunction is a common symptom in patients with neurodegenerative disorders, including Huntington's disease (HD). Understanding its pathophysiology is important in establishing a preventive and therapeutic plan. In this literature review, we cover the physiology of olfaction, its role in neurodegeneration, and its characteristics in patients with HD. In the general population, olfactory dysfunction is present in 3.8-5.8%and the prevalence increases significantly in those older than 80 years. For HD, data regarding prevalence rates are lacking and the scales used have been inconsistent or have been restructured due to concerns about cross-cultural understanding. Pathogenic huntingtin deposits have been found in the olfactory bulb of individuals with HD, although no studies have correlated this with the grade of olfactory impairment. Olfactory dysfunction is present in both premanifest and manifest patients with HD, showing a progressive decline over time with more severe deficits at advanced stages. No specific treatment for olfactory impairment in HD has been proposed; identifying and avoiding potential medications that cause olfactory dysfunction, as well as general safety recommendations remain the basis of the therapeutic strategy.
嗅觉功能障碍是神经退行性疾病患者的常见症状,包括亨廷顿病(HD)。了解其病理生理学对于制定预防和治疗计划非常重要。在这篇文献综述中,我们涵盖了嗅觉的生理学、它在神经退行性变中的作用以及 HD 患者的特征。在一般人群中,嗅觉功能障碍的患病率为 3.8-5.8%,而在 80 岁以上的人群中,患病率显著增加。对于 HD,关于患病率的数据缺乏,并且由于对跨文化理解的关注,所使用的量表不一致或已重新构建。在 HD 个体的嗅球中已经发现致病性亨廷顿蛋白沉积,尽管尚无研究将其与嗅觉损伤程度相关联。在 HD 的无症状和有症状患者中均存在嗅觉功能障碍,随着时间的推移呈进行性下降,在晚期阶段的缺陷更为严重。尚未提出针对 HD 嗅觉障碍的特定治疗方法;确定和避免可能引起嗅觉功能障碍的潜在药物以及一般安全建议仍然是治疗策略的基础。