Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation

Clin Neurophysiol. 2020 Jul;131(7):1548-1555. doi: 10.1016/j.clinph.2020.03.036. Epub 2020 Apr 23.

Abstract

Objective: In patients with spinocerebellar ataxia type 1 or 2 (SCA1 or SCA2) and in their asymptomatic gene-positive relatives (AsyRs) we investigated the event-related desynchronization and synchronisation (ERD/ERS) on magnetoencephalographic signals to assess the changes occurring before manifest ataxia, by comparing the results obtained in AsyRs and in their gene-negative healthy relatives (HRs).

Methods: Twenty-four patients (12 SCA1, 12 SCA2), 24 AsyRs (13 SCA1, 11 SCA2) and 17 HRs performed a visually cued Go/No-go task. We evaluated the ERD/ERS in regions of interest corresponding to the frontal, central and parietal cortices.

Results: In the SCA patients the main findings were a loss of side predominance for alpha and beta ERD and significantly weakened beta ERS. In AsyRs the main finding was a significantly enhanced alpha ERD, namely in those who were approaching the estimated time of symptom onset.

Conclusions: In ataxic patients, the loss of ERD lateralisation and the significantly reduction of beta ERS suggest defective bilateral processes that are involved in ending the movement. In AsyRs, enhanced alpha ERD proposes the presence of preclinical marker closely preceding symptom onset.

Significance: Movement-related ERD/ERS can detect the defective sensorimotor integration in ataxic patients, and reveals possible compensatory mechanisms in their AsyRs.

Keywords: Asymptomatic gene-positive relatives; ERD/ERS; MEG; Spinocerebellar ataxia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asymptomatic Diseases
  • Ataxin-1 / genetics
  • Ataxin-2 / genetics
  • Brain Waves*
  • Cerebral Cortex / physiopathology
  • Female
  • Heterozygote
  • Humans
  • Magnetoencephalography / methods
  • Male
  • Middle Aged
  • Movement
  • Mutation*
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / physiopathology*

Substances

  • ATXN1 protein, human
  • ATXN2 protein, human
  • Ataxin-1
  • Ataxin-2