弗里德里希共济失调症运动功能障碍的功能磁共振成像研究。

A functional MRI study of motor dysfunction in Friedreich's ataxia.

机构信息

Florey Neurosciences Institutes, University of Melbourne, Parkville, Australia; Centre for Neuroscience, University of Melbourne, Parkville, Australia.

出版信息

Brain Res. 2012 Aug 30;1471:138-54. doi: 10.1016/j.brainres.2012.06.035. Epub 2012 Jul 3.

Abstract

Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia. In addition to proximal spinal cord and brain stem atrophy, mild to moderate atrophy of the cerebellum has been reported in advanced FRDA. The aim of this study was to examine dysfunction in motor-related areas involved in the execution of finger tapping tasks in individuals with FRDA, and to investigate functional re-organization of cortico-cerebellar, cortico-striatal and parieto-frontal loops as a result of the cerebellar pathology. Thirteen right-handed individuals with FRDA and fourteen right-handed controls participated. Functional MRI images were acquired during four different finger tapping tasks consisting of visually cued regular and irregular single finger tapping tasks, a self-paced regular finger tapping task, and a visually cued multi-finger tapping task. Both groups showed significant activation of the motor-related network including the pre-central cortex and supplementary motor area bilaterally; the left primary motor cortex, somatosensory cortex and putamen; and the right cerebellum. During the visually cued regular finger tapping task, the right hemisphere of the cerebellar cortex, bilateral supplementary motor areas and right inferior parietal cortex showed higher activation in the healthy control group, while in individuals with FRDA the left premotor cortex, left somatosensory cortex and left inferior parietal cortex were more active. In addition, during the visually cued irregular finger tapping task, the right middle temporal gyrus in the control group and the right superior parietal lobule and left superior and middle temporal gyri in the individuals with FRDA showed higher activation. During visually cued multi-finger tapping task, the control group showed higher activation in the bilateral middle frontal gyri, bilateral somatosensory cortices, bilateral inferior parietal lobules, left premotor cortex, left supplementary area, right superior frontal gyrus and right cerebellum, while individuals with FRDA showed increased activity in the left inferior parietal lobule, left primary motor cortex, left middle occipital gyrus, right somatosensory cortex and the left cerebellum. Only the right crus I/II of the cerebellum showed higher activation in individuals with FRDA during the self-paced regular finger tapping task, whereas wide-spread regions including the left superior frontal gyrus, left central opercular cortex, left somatosensory cortex, left putamen, right cerebellum, bilateral primary motor cortices, bilateral inferior parietal lobules and the left insula were more active in the control group. Although the pattern of the BOLD signal from the putamen was different during the self-paced regular finger tapping task to the other tasks in controls, in individuals with FRDA there was no distinction of the signal between the tasks suggesting that primary cerebellar pathology may cause secondary basal ganglia dysregulation. While individuals with FRDA tapped at a slightly lower rate (0.59Hz) compared with controls (0.74Hz) they showed significantly decreased activity of the SMA and the inferior parietal lobule, which may suggest disruption to the fronto-parietal connections. These findings suggest that the motor impairments in individuals with FRDA result from dysfunction extending beyond the spinal cord and cerebellum to include sub-cortical and cortical brain regions.

摘要

弗里德里希共济失调(FRDA)是最常见的遗传性共济失调形式。除了近端脊髓和脑干萎缩外,FRDA 晚期还会出现小脑轻度至中度萎缩。本研究的目的是检查 FRDA 患者执行手指敲击任务时涉及运动相关区域的功能障碍,并研究由于小脑病变导致的皮质-小脑、皮质-纹状体和顶-额前环路的功能重新组织。13 名右利手 FRDA 患者和 14 名右利手对照者参与了研究。在四项不同的手指敲击任务中采集功能磁共振成像(fMRI)图像,包括视觉提示的规则和不规则单指敲击任务、自我调节的规则手指敲击任务和视觉提示的多指敲击任务。两组参与者的运动相关网络均有显著激活,包括双侧中央前回和辅助运动区;左侧初级运动皮质、体感皮质和壳核;以及右侧小脑。在视觉提示的规则手指敲击任务中,健康对照组的右侧小脑皮质、双侧辅助运动区和右侧顶下小叶显示出更高的激活,而 FRDA 患者的左侧运动前皮质、左侧体感皮质和左侧顶下小叶则更活跃。此外,在视觉提示的不规则手指敲击任务中,对照组的右侧颞中回和 FRDA 患者的右侧顶上小叶和左侧顶叶上、中回显示出更高的激活。在视觉提示的多指敲击任务中,对照组双侧额中回、双侧体感皮质、双侧顶下小叶、左侧运动前皮质、左侧辅助运动区、右侧额上回和右侧小脑显示出更高的激活,而 FRDA 患者则显示出左侧顶下小叶、左侧初级运动皮质、左侧枕中回、右侧体感皮质和左侧小脑的活动增加。只有 FRDA 患者在自我调节的规则手指敲击任务中右侧小脑脚 I/II 显示出更高的激活,而对照组则显示出更广泛的区域激活,包括左侧额上回、左侧中央前回、左侧体感皮质、左侧壳核、右侧小脑、双侧初级运动皮质、双侧顶下小叶和左侧岛叶。尽管对照组在自我调节的规则手指敲击任务与其他任务之间的壳核的 BOLD 信号模式不同,但 FRDA 患者在任务之间没有信号差异,这表明原发性小脑病变可能导致继发性基底节调节异常。尽管 FRDA 患者的敲击速度(0.59Hz)略低于对照组(0.74Hz),但他们的 SMA 和顶下小叶的活动明显减少,这可能表明额顶连接中断。这些发现表明,FRDA 患者的运动障碍不仅源于脊髓和小脑的功能障碍,还包括皮质下和皮质脑区的功能障碍。

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