Functional connectivity of the motor system in dystonia due to PKAN

• Main Authors: Peter Stoeter, Pedro Roa, Pamela Bido, Herwin Speckter, Jairo Oviedo, Rea Rodriguez-Raecke
• Format: Article
• Language: English
• Published: Elsevier 2021-03-01
• Series: eNeurologicalSci
• Subjects: Pantothenate Kinase Associated Neurodegeneration; Dystonia; Resting state; Functional connectivity
• Online Access: http://www.sciencedirect.com/science/article/pii/S240565022100006X

Purpose: 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. Material and methods: 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. Results: During resting state, correlation coefficients within the motor system were significantly lower in patients than in controls (0.025 vs. 0.133, p < 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 (p < 0.05). 6 out of 12 connections, which correlated significantly to duration of disease, were connections between both sub-networks. Conclusion: 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.