Neurophysiological signatures of motor impairment in patients with Rett syndrome

Annals of Neurology
Pia BernardoRaffaele Dubbioso

Abstract

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 cortical level. Herein we aimed at understanding neurobiological mechanisms underlying motor deficit by assessing in "vivo" synaptic plasticity and E/I balance in the primary motor cortex (M1). On 14 patients with typical RTT, 9 epilepsy controls 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. 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 intra-cortical facilitation, suggesting a shift toward cortical ...Continue Reading

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Citations

Sep 30, 2020·Journal of Neurodevelopmental Disorders·Katherine S AdcockSeth A Hays
Oct 22, 2020·Annals of Clinical and Translational Neurology·Lucia RuggieroRosa Iodice
Jul 24, 2021·American Journal of Medical Genetics. Part a·Anne-Marie BisgaardMichelle Stahlhut

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