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家族性帕金森病的结构和功能磁共振成像。

Structural and Functional MRI in Familial Parkinson's Disease.

机构信息

Movement Disorders Unit, Neurological Institute, Tel Aviv Medical Center, Tel Aviv, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.

出版信息

Int Rev Neurobiol. 2018;142:261-287. doi: 10.1016/bs.irn.2018.09.005. Epub 2018 Oct 9.

Abstract

Between 10 and 15% of Parkinson disease (PD) cases can be traced to a genetically identified causative mutation which currently number over 40. This enables the study of both "at risk" populations for future development of PD and a unique sub-group of genetically determined patient population. Structural and functional magnetic imaging has the potential of assisting diagnosis, early detection and disease progression as it is relatively cheap and easy to implement. However, the large variety of imaging options and different analytical approaches hamper the pursuit of a unified imaging biomarker. This chapter details the current imaging options and summarizes the findings among both genetically determined patients with PD and their non-manifesting first degree relatives, speculating on possible compensational mechanisms while mapping future directions in order to better utilize MRI in the research of genetic PD.

摘要

帕金森病(PD)病例中有 10%至 15%可以追溯到已确定的基因突变,目前已发现超过 40 种。这使得人们可以研究未来 PD 发病风险人群和具有特定遗传决定的患者亚群。结构和功能磁共振成像具有辅助诊断、早期发现和疾病进展的潜力,因为它相对便宜且易于实施。然而,成像选择的多样性和不同的分析方法阻碍了统一成像生物标志物的研究。本章详细介绍了当前的成像选择,并总结了具有 PD 遗传突变的患者及其未发病一级亲属的研究结果,推测了在规划未来方向时可能存在的代偿机制,以便更好地利用 MRI 研究遗传 PD。

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