Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Neurophysiological signatures of motor impairment in patients with Rett syndrome

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. MRI in Neuromuscular Diseases: An Emerging Diagnostic Tool and Biomarker for Prognosis and Efficacy

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  2. A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Neuroinflammatory markers associate with cognitive decline after major surgery: findings of an explorative study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Probing EEG activity in the targeted cortex after focal transcranial electrical stimulation

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. No trace of phase: Corticomotor excitability is not tuned by phase of pericentral mu-rhythm

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Distilling the essence of TMS-evoked EEG potentials (TEPs): A call for securing mechanistic specificity and experimental rigor

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Editorial: Need to find a signature of abnormal brain oscillations in task-specific focal dystonia

    Publikation: Bidrag til tidsskriftLederForskningpeer review

  • Pia Bernardo
  • Stuart Cobb
  • Antonietta Coppola
  • Leo Tomasevic
  • Vincenzo Di Lazzaro
  • Carmela Bravaccio
  • Fiore Manganelli
  • Raffaele Dubbioso
Vis graf over relationer

Objective: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder due to pathogenic mutations in the MECP2 gene. Motor impairment constitutes the core diagnostic feature of RTT. Preclinical studies have consistently demonstrated alteration of excitation/inhibition (E/I) balance and aberrant synaptic plasticity at the cortical level. We aimed to understand neurobiological mechanisms underlying motor deficit by assessing in vivo synaptic plasticity and E/I balance in the primary motor cortex (M1). Methods: In 14 patients with typical RTT, 9 epilepsy control patients, and 11 healthy controls, we applied paired-pulse transcranial magnetic stimulation (TMS) protocols to evaluate the excitation index, a biomarker reflecting the contribution of inhibitory and facilitatory circuits in M1. Intermittent TMS-theta burst stimulation was used to probe long-term potentiation (LTP)-like plasticity in M1. Motor impairment, assessed by ad hoc clinical scales, was correlated with neurophysiological metrics. Results: RTT patients displayed a significant increase of the excitation index (p = 0.003), as demonstrated by the reduction of short-interval intracortical inhibition and increase of intracortical facilitation, suggesting a shift toward cortical excitation likely due to GABAergic dysfunction. Impairment of inhibitory circuits was also confirmed by the reduction of long-interval intracortical inhibition (p = 0.002). LTP-like plasticity in M1 was abolished (p = 0.008) and scaled with motor disability (all p = 0.003). Interpretation: TMS is a method that can be used to assess cortical motor function in RTT patients. Our findings support the introduction of TMS measures in clinical and research settings to monitor the progression of motor deficit and response to treatment. ANN NEUROL 2020;87:763–773.

OriginalsprogEngelsk
TidsskriftAnnals of Neurology
Vol/bind87
Udgave nummer5
Sider (fra-til)763-773
Antal sider11
ISSN0364-5134
DOI
StatusUdgivet - maj 2020

ID: 59510769