Stoeter Peter, Roa Pedro, Bido Pamela, Speckter Herwin, Oviedo Jairo, Rodriguez-Raecke Rea
Department of Radiology, CEDIMAT, Santo Domingo, Dominican Republic.
Department of Neurology, CEDIMAT, Santo Domingo, Dominican Republic.
eNeurologicalSci. 2021 Jan 19;22:100314. doi: 10.1016/j.ensci.2021.100314. eCollection 2021 Mar.
To demonstrate deviations of functional connectivity within the motor system in dystonic patients suffering from Pantothenate Kinase Associated Neurodegeneration, a genetic and metabolic disease, which is characterized by a primary lesion in the globus pallidus.
Functional Magnetic Resonance Imaging data were measured during resting state in 12 patients suffering from a confirmed mutation of the PANK2 gene. In this region-of-interest based analysis, data were evaluated in respect to correlation of signal time course between basal ganglia, motor-related cortical regions and cerebellum, were related to clinical data and were compared to a control group of 20 healthy volunteers.
During resting state, correlation coefficients within the motor system were significantly lower in patients than in controls (0.025 vs. 0.133, < 0.05). Network analysis by Network Based Statistics showed that these differences mainly affected the connectivity between a sub-network consisting of the basal ganglia and another one, the motor system-related cortical areas ( < 0.05). 6 out of 12 connections, which correlated significantly to duration of disease, were connections between both sub-networks.
The finding of a reduced functional connectivity within the motor network, between the basal ganglia and cortical motor-related areas, fits well into the concept of a general functional disturbance of the motor system in PKAN.
证明泛酸激酶相关神经变性（一种遗传性代谢疾病，其特征为苍白球原发性病变）患者运动系统内功能连接的偏差。
对12例确诊为PANK2基因突变的患者在静息状态下进行功能磁共振成像数据测量。在这种基于感兴趣区域的分析中，评估了基底神经节、运动相关皮质区域和小脑之间信号时间进程的相关性数据，将其与临床数据相关联，并与20名健康志愿者的对照组进行比较。
在静息状态下，患者运动系统内的相关系数显著低于对照组（0.025对0.133，P<0.05）。基于网络统计学的网络分析表明，这些差异主要影响由基底神经节组成的子网与另一个与运动系统相关的皮质区域子网之间的连接性（P<0.05）。12条与疾病持续时间显著相关的连接中，有6条是两个子网之间的连接。
在PKAN中，基底神经节与皮质运动相关区域之间运动网络内功能连接减少的发现，与运动系统普遍功能障碍的概念非常吻合。
