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Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI study

Silva, Gilberto, Duarte, Isabel Catarina, Bernardino, Inês, Marques, Tânia, Violante, Inês R. and Castelo-Branco, Miguel (2018) Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI study Journal of Neurodevelopmental Disorders, 10 (11).

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Neurofibromatosis type1 (NF1) is associated with a broad range of behavioural deficits, and an imbalance between excitatory and inhibitory neurotransmission has been postulated in this disorder. Inhibition is involved in the control of frequency and stability of motor rhythms. Therefore, we aimed to explore the link between behavioural motor control, brain rhythms and brain activity, as assessed by EEG and fMRI in NF1.


We studied a cohort of 21 participants with NF1 and 20 age- and gender-matched healthy controls, with a finger-tapping task requiring pacing at distinct frequencies during EEG and fMRI scans.


We found that task performance was significantly different between NF1 and controls, the latter showing higher tapping time precision. The time-frequency patterns at the beta sub-band (20–26 Hz) mirrored the behavioural modulations, with similar cyclic synchronization/desynchronization patterns for both groups. fMRI results showed a higher recruitment of the extrapyramidal motor system (putamen, cerebellum and red nucleus) in the control group during the fastest pacing condition.


The present study demonstrated impaired precision in rhythmic pacing behaviour in NF1 as compared with controls. We found a decreased recruitment of the cerebellum, a structure where inhibitory interneurons are essential regulators of rhythmic synchronization, and in deep brain regions pivotally involved in motor pacing. Our findings shed light into the neural underpinnings of motor timing deficits in NF1.

Item Type: Article
Divisions : Faculty of Health and Medical Sciences > School of Psychology
Authors :
Silva, Gilberto
Duarte, Isabel Catarina
Bernardino, Inês
Marques, Tânia
Violante, Inês
Castelo-Branco, Miguel
Date : 22 March 2018
DOI : 10.1186/s11689-018-9230-4
Copyright Disclaimer : © The Author(s). 2018. Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0International License (, which permits unrestricted use, distribution, andreproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link tothe Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver( applies to the data made available in this article, unless otherwise stated.
Uncontrolled Keywords : Neurofibromatosis type 1; Inhibition; EEG; fMRI; Motor coordination
Depositing User : Clive Harris
Date Deposited : 12 Apr 2018 06:45
Last Modified : 16 Jan 2019 19:09

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