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亨廷顿舞蹈症的磁共振成像生物标志物

MRI biomarkers in Huntington's disease.

作者信息

van den Bogaard Simon, Dumas Eve, van der Grond Jeroen, van Buchem Mark, Roos Raymund

机构信息

Department of Neurology, Leiden University Medical Centre, Albinusdreef 2, 2300 RC Leiden, The Netherlands.

出版信息

Front Biosci (Elite Ed). 2012 Jan 1;4(5):1910-25. doi: 10.2741/e512.

Abstract

Huntington's disease (HD) is a devastating neurodegenerative disease affecting the brain resulting in neuronal dysfunction and neuronal loss. Since the identification of the gene responsible for HD, genetic testing has become widely available, allowing for genetic status of persons at risk for HD to be determined. For the effective evaluation of future therapeutic trials a great need exists for sensitive biomarkers. In (premanifest) HD, MRI of the brain is one of the most logical candidates as a biomarker, as opposed to clinical measures, since brain neurons are the main target of the disease. These biomarkers can facilitate early detection of disease related changes, but are also needed to monitor disease progression from the premanifest phase of HD onwards. MRI derived parameters have this biomarker potential as they have been shown to identify brain abnormalities before symptom onset. In this review the available MRI techniques of conventional MRI, Diffusion Tensor Imaging, Magnetization Transfer Imaging, Magnetic Resonance Spectroscopy and Functional MRI will be discussed and the findings will be placed into context of different HD stages.

摘要

亨廷顿舞蹈症(HD)是一种严重的神经退行性疾病,会影响大脑,导致神经元功能障碍和神经元丧失。自确定导致HD的基因以来,基因检测已广泛应用,能够确定HD高危人群的基因状况。为有效评估未来的治疗试验,对敏感生物标志物的需求非常迫切。在(症状前)HD中,与临床指标相比,脑部MRI是作为生物标志物的最合理候选之一,因为脑神经元是该疾病的主要靶点。这些生物标志物有助于早期发现疾病相关变化,而且从HD症状前阶段开始监测疾病进展也需要它们。MRI衍生参数具有这种生物标志物潜力,因为已证明它们能够在症状出现前识别脑部异常。在本综述中,将讨论传统MRI、扩散张量成像、磁化传递成像、磁共振波谱和功能MRI等现有的MRI技术,并将研究结果置于HD不同阶段的背景中。

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