Tranfa Mario, Costabile Teresa, Pontillo Giuseppe, Scaravilli Alessandra, Pane Chiara, Brunetti Arturo, Saccà Francesco, Cocozza Sirio
Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini 5, 80131, Naples, Italy.
Department of Clinical and Experimental Medicine, "Luigi Vanvitelli" University, Naples, Italy.
Cerebellum. 2025 Jan 14;24(2):30. doi: 10.1007/s12311-025-01785-3.
Historically, Friedreich's Ataxia (FRDA) has been linked to a relatively preserved cerebellar cortex. Recent advances in neuroimaging have revealed altered cerebello-cerebral functional connectivity (FC), but the extent of intra-cerebellar FC changes and their impact on cognition remains unclear. This study investigates intra-cerebellar FC alterations and their cognitive implications in FRDA. In this cross-sectional, single-center study, resting-state functional MRI data from 17 patients with FRDA (average age 27.7 ± 13.6 years; F/M = 6/11) and 20 healthy controls (HC) (average age 29.4 ± 9.7 years; F/M = 9/11), all of whom underwent neuropsychological testing, were analyzed. From functional connectivity matrices, graph measures were computed at both the network and node levels using two complementary parcellations. FRDA patients exhibited decreased global efficiency (p = 0.04), nodal degree (p = 0.001) and betweenness centrality (p = 0.04) in the vermal portion of lobule VIII, along with reduced global efficiency in cerebellar regions belonging to the Control-A network (p = 0.02), one of the three subdivisions of the Frontoparietal network. Verbal memory deficits correlated with global efficiency in both the vermal portion of lobule VIII (r = 0.53, p = 0.02) and the cerebellar regions of the Control-A network (r = 0.49, p = 0.05). Graph analysis revealed regional intra-cerebellar FC changes in FRDA, marked by reduced functional centrality in cerebellar regions of the vermis and responsible for executive functions. These changes correlated with cognitive alterations, highlighting the role of the cerebellar cortex in the cognitive impairment observed in FRDA.
从历史上看，弗里德赖希共济失调（FRDA）一直与相对保留的小脑皮质有关。神经影像学的最新进展揭示了小脑-大脑功能连接（FC）的改变，但小脑内FC变化的程度及其对认知的影响仍不清楚。本研究调查了FRDA患者小脑内FC的改变及其对认知的影响。在这项横断面单中心研究中，分析了17例FRDA患者（平均年龄27.7±13.6岁；女/男=6/11）和20名健康对照者（HC）（平均年龄29.4±9.7岁；女/男=9/11）的静息态功能磁共振成像数据，所有参与者均接受了神经心理学测试。从功能连接矩阵中，使用两种互补的脑区划分方法在网络和节点水平上计算图论指标。FRDA患者在小叶VIII的蚓部表现出全局效率降低（p=0.04）、节点度降低（p=0.001）和中介中心性降低（p=0.04），同时在额叶顶叶网络三个细分区域之一的Control-A网络所属的小脑区域中全局效率也降低（p=0.02）。言语记忆缺陷与小叶VIII蚓部（r=0.53，p=0.02）和Control-A网络的小脑区域（r=0.49，p=0.05）的全局效率相关。图论分析揭示了FRDA患者小脑内区域FC的变化，其特征是蚓部小脑区域的功能中心性降低，且与执行功能有关。这些变化与认知改变相关，突出了小脑皮质在FRDA认知障碍中的作用。
