Centre de Recherche du CHU de Québec, Axe Neurosciences, Québec, QC, Canada.
Département de Psychiatrie & Neurosciences, Université Laval, Québec, QC, Canada.
Mol Psychiatry. 2023 Oct;28(10):4070-4083. doi: 10.1038/s41380-023-02230-9. Epub 2023 Sep 25.
Developing effective treatments for patients with Huntington's disease (HD)-a neurodegenerative disorder characterized by severe cognitive, motor and psychiatric impairments-is proving extremely challenging. While the monogenic nature of this condition enables to identify individuals at risk, robust biomarkers would still be extremely valuable to help diagnose disease onset and progression, and especially to confirm treatment efficacy. If measurements of cerebrospinal fluid neurofilament levels, for example, have demonstrated use in recent clinical trials, other proteins may prove equal, if not greater, relevance as biomarkers. In fact, proteins such as tau could specifically be used to detect/predict cognitive affectations. We have herein reviewed the literature pertaining to the association between tau levels and cognitive states, zooming in on Alzheimer's disease, Parkinson's disease and traumatic brain injury in which imaging, cerebrospinal fluid, and blood samples have been interrogated or used to unveil a strong association between tau and cognition. Collectively, these areas of research have accrued compelling evidence to suggest tau-related measurements as both diagnostic and prognostic tools for clinical practice. The abundance of information retrieved in this niche of study has laid the groundwork for further understanding whether tau-related biomarkers may be applied to HD and guide future investigations to better understand and treat this disease.
开发针对亨廷顿病 (HD) 患者的有效治疗方法极具挑战性,HD 是一种以严重认知、运动和精神障碍为特征的神经退行性疾病。虽然这种疾病的单基因性质使得能够识别处于风险中的个体,但稳健的生物标志物仍然非常有价值,可以帮助诊断疾病的发作和进展,特别是确认治疗效果。例如,如果脑脊液神经丝水平的测量在最近的临床试验中已经证明是有用的,那么其他蛋白质可能同样具有同等甚至更大的相关性作为生物标志物。事实上,像 tau 这样的蛋白质可以专门用于检测/预测认知障碍。我们在此回顾了与 tau 水平与认知状态之间的关联的文献,重点关注阿尔茨海默病、帕金森病和创伤性脑损伤,在这些疾病中,已经进行了成像、脑脊液和血液样本的检测或使用,以揭示 tau 与认知之间的强烈关联。这些研究领域的综合研究积累了令人信服的证据,表明 tau 相关测量可作为临床实践的诊断和预后工具。在这个研究领域中检索到的大量信息为进一步了解 tau 相关生物标志物是否可应用于 HD 并指导未来的研究以更好地理解和治疗这种疾病奠定了基础。