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

AimOur aim was to describe the rearrangements of the brain activity related to genetic mutations in the SPAST gene.MethodsTen 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.ResultsOur 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.ConclusionMutations in the SPAST gene are related to a reorganization of the brain topology.

• Publication year

  2019

• Venue

  Neurological Sciences

• Publication date

  2019-02-08

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s10072-019-3725-yPMID 30737580PMCID 6478644
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Resting state fMRI studies in SPG4-linked hereditary spastic paraplegia.

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• Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

  2015cited by this paper
• The trees and the forest: Characterization of complex brain networks with minimum spanning trees.

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  2000cited by this paper
• Localization of brain electrical activity via linearly constrained minimum variance spatial filtering

  1997cited by this paper
• Controlling the false discovery rate: a practical and powerful approach to multiple testing

  1995influential reference
• Classification of the hereditary ataxias and paraplegias.

  1983cited by this paper
• Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.

  1981cited by this paper
• On the shortest spanning subtree of a graph and the traveling salesman problem

  1956cited by this paper
• Human Brain Mapping 15:1–25(2001) � Nonparametric Permutation Tests For Functional Neuroimaging:

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