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01-10-2016 | Psychiatry and Preclinical Psychiatric Studies - Review Article

Impaired synaptic plasticity in RASopathies: a mini-review

Authors: Florian Mainberger, Susanne Langer, Volker Mall, Nikolai H. Jung

Published in: Journal of Neural Transmission | Issue 10/2016

Abstract

Synaptic plasticity in the form of long-term potentiation (LTP) and long-term depression (LTD) is considered to be the neurophysiological correlate of learning and memory. Impairments are discussed to be one of the underlying pathophysiological mechanisms of developmental disorders. In so-called RASopathies [e.g., neurofibromatosis 1 (NF1)], neurocognitive impairments are frequent and are affected by components of the RAS pathway which lead to impairments in synaptic plasticity. Transcranial magnetic stimulation (TMS) provides a non-invasive method to investigate synaptic plasticity in humans. Here, we review studies using TMS to evaluate synaptic plasticity in patients with RASopathies. Patients with NF1 and Noonan syndrome (NS) showed reduced cortical LTP-like synaptic plasticity. In contrast, increased LTP-like synaptic plasticity has been shown in Costello syndrome. Notably, lovastatin normalized impaired LTP-like plasticity and increased intracortical inhibition in patients with NF1. TMS has been shown to be a safe and efficient method to investigate synaptic plasticity and intracortical inhibition in patients with RASopathies. Deeper insights in impairments of synaptic plasticity in RASopathies could help to develop new options for the therapy of learning deficits in these patients.

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Title: Impaired synaptic plasticity in RASopathies: a mini-review
Authors: Florian Mainberger
Susanne Langer
Volker Mall
Nikolai H. Jung
Publication date: 01-10-2016
Publisher: Springer Vienna
Published in: Journal of Neural Transmission / Issue 10/2016
Print ISSN: 0300-9564
Electronic ISSN: 1435-1463
DOI: https://doi.org/10.1007/s00702-016-1609-3

At a glance: The STEP trials

Springer Medicine

Impaired synaptic plasticity in RASopathies: a mini-review

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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