Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks

• Published in: Neurological sciences Vol. 40; no. 5; pp. 979 - 984
• Main Authors: Rucco, Rosaria, Liparoti, Marianna, Jacini, Francesca, Baselice, Fabio, Antenora, Antonella, De Michele, Giuseppe, Criscuolo, Chiara, Vettoliere, Antonio, Mandolesi, Laura, Sorrentino, Giuseppe, Sorrentino, Pierpaolo
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.05.2019; Springer Nature B.V; Springer Verlag
• Subjects: Adult; Aged; Beta Rhythm; Brain - physiopathology; Cognitive science; Cohort Studies; Cortical Synchronization; Female; Hereditary spastic paraplegia; Humans; Leaves; Magnetoencephalography; Male; Medicine; Medicine & Public Health; Middle Aged; Mutation; Neurology; Neuroradiology; Neuroscience; Neurosciences; Neurosurgery; Original; Original Article; Paralysis; Psychiatry; Rest; Spastic Paraplegia, Hereditary - genetics; Spastic Paraplegia, Hereditary - physiopathology; Spasticity; Spastin - genetics; Hereditary spastic paraplegia; Motoneuron disease; Magnetic source imaging; Neural synchronization; Magnetoencephalography; Brain network
• ISSN: 1590-1874; 1590-3478; 1590-3478
• DOI: 10.1007/s10072-019-3725-y

Aim Our aim was to describe the rearrangements of the brain activity related to genetic mutations in the SPAST gene. Methods Ten SPG4 patients and ten controls underwent a 5 min resting state magnetoencephalography recording and neurological examination. A beamformer algorithm reconstructed the activity of 90 brain areas. The phase lag index was used to estimate synchrony between brain areas. The minimum spanning tree was used to estimate topological metrics such as the leaf fraction (a measure of network integration) and the degree divergence (a measure of the resilience of the network against pathological events). The betweenness centrality (a measure to estimate the centrality of the brain areas) was used to estimate the centrality of each brain area. Results Our results showed topological rearrangements in the beta band. Specifically, the degree divergence was lower in patients as compared to controls and this parameter related to clinical disability. No differences appeared in leaf fraction nor in betweenness centrality. Conclusion Mutations in the SPAST gene are related to a reorganization of the brain topology.