Institute of Clinical Neurobiology, Alberichgasse 5/13, 1150, Vienna, Austria.
J Neural Transm (Vienna). 2024 Dec;131(12):1511-1522. doi: 10.1007/s00702-024-02750-w. Epub 2024 Feb 13.
Huntington's disease (HD) is an autosomal-dominant progressive neurodegenerative disease that manifests with a triad of symptoms including motor dysfunctions, cognitive deficits, and prominent neuropsychiatric symptoms, the most common of which is depression, with a prevalence between 30 and 70%. Depressive symptoms occur in all stages of HD, beginning in presymptomatic HD gene carriers, and are strongly associated with suicidal ideation and suicidality, but their relationship with other clinical dimensions in HD is controversial and the underlying pathophysiology is poorly understood. Analysis of the available literature until November 2023 concerned the prevalence, clinical manifestations, neuroimaging, transgenic models, and treatment options of HD depression. While it was believed that depression in HD is due to psychosomatic factors in view of the fatal disease, studies in transgenic models of HD demonstrated molecular changes including neurotrophic and serotonergic dysregulation and disorders of the hypothalamic-pituitary-adrenal axis inducing depression-like changes. While relevant neuropathological data are missing, recent neuroimaging studies revealed correlations between depressive symptoms and dysfunctional connectivities in the default mode network, basal ganglia and prefrontal cortex, and changes in limbic and paralimbic structures related to the basic neurodegenerative process. The impact of response to antidepressants in HD patients is controversial; selective serotonin reuptake inhibitors are superior to serotonin-norepinephrine reuptake inhibitors, while electroconvulsive therapy may be effective for pharmacotherapy resistant cases. Since compared to major depressive disorder and depression in other neurodegenerative diseases, our knowledge of the molecular basis in HD depression is limited, further studies to elucidate the heterogeneous pathogenesis in this fatal disorder are warranted.
亨廷顿病(HD)是一种常染色体显性遗传的进行性神经退行性疾病,表现为三联征,包括运动功能障碍、认知缺陷和明显的神经精神症状,其中最常见的是抑郁症,患病率在 30%至 70%之间。抑郁症症状出现在 HD 的所有阶段,从无症状的 HD 基因携带者开始,并与自杀意念和自杀行为强烈相关,但它们与 HD 其他临床特征的关系存在争议,其潜在的病理生理学知之甚少。截至 2023 年 11 月,对 HD 抑郁的现有文献进行了分析,包括患病率、临床表现、神经影像学、转基因模型和治疗选择。虽然鉴于致命疾病,认为 HD 中的抑郁症是由心身因素引起的,但 HD 转基因模型的研究表明存在分子变化,包括神经营养和 5-羟色胺能调节障碍以及下丘脑-垂体-肾上腺轴紊乱,导致类似抑郁的变化。虽然缺乏相关的神经病理学数据,但最近的神经影像学研究表明,抑郁症状与默认模式网络、基底节和前额叶皮质的功能连接障碍以及与基本神经退行性过程相关的边缘和旁边缘结构的变化之间存在相关性。HD 患者对抗抑郁药反应的影响存在争议;选择性 5-羟色胺再摄取抑制剂优于 5-羟色胺-去甲肾上腺素再摄取抑制剂,而电惊厥疗法可能对药物治疗抵抗的病例有效。由于与重性抑郁症和其他神经退行性疾病中的抑郁症相比,我们对 HD 抑郁症的分子基础的了解有限,因此需要进一步研究阐明这种致命疾病的异质发病机制。