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帕金森病遗传形式中的影像学标志物。

Imaging Markers in Genetic Forms of Parkinson's Disease.

作者信息

Droby Amgad, Thaler Avner, Mirelman Anat

机构信息

Laboratory for Early Markers of Neurodegeneration (LEMON), Neurological Institute, Tel Aviv Medical Center, Tel Aviv 6801298, Israel.

Movement Disorders Unit, Neurological Institute, Tel Aviv Medical Center, Tel Aviv 6423906, Israel.

出版信息

Brain Sci. 2023 Aug 16;13(8):1212. doi: 10.3390/brainsci13081212.

Abstract

Parkinson's disease (PD) is a complex neurodegenerative disorder characterized by motor symptoms such as bradykinesia, rigidity, and resting tremor. While the majority of PD cases are sporadic, approximately 15-20% of cases have a genetic component. Advances in neuroimaging techniques have provided valuable insights into the pathophysiology of PD, including the different genetic forms of the disease. This literature review aims to summarize the current state of knowledge regarding neuroimaging findings in genetic PD, focusing on the most prevalent known genetic forms: mutations in the , , and genes. In this review, we will highlight the contributions of various neuroimaging modalities, including positron emission tomography (PET), single-photon emission computed tomography (SPECT), and magnetic resonance imaging (MRI), in elucidating the underlying pathophysiological mechanisms and potentially identifying candidate biomarkers for genetic forms of PD.

摘要

帕金森病(PD)是一种复杂的神经退行性疾病,其特征为运动症状,如运动迟缓、僵硬和静止性震颤。虽然大多数帕金森病病例是散发性的,但约15%-20%的病例有遗传因素。神经成像技术的进展为帕金森病的病理生理学,包括该疾病的不同遗传形式,提供了有价值的见解。这篇文献综述旨在总结关于遗传性帕金森病神经成像结果的当前知识状态,重点关注最常见的已知遗传形式: 、 和 基因的突变。在本综述中,我们将强调各种神经成像模态的贡献,包括正电子发射断层扫描(PET)、单光子发射计算机断层扫描(SPECT)和磁共振成像(MRI),以阐明潜在的病理生理机制,并有可能识别遗传性帕金森病的候选生物标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4611/10452191/a93b8826fe89/brainsci-13-01212-g001.jpg

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