Intact procedural learning and motor intracortical inhibition in adult neurofibromatosis type 1 gene carriers

TY - JOUR

T1 - Intact procedural learning and motor intracortical inhibition in adult neurofibromatosis type 1 gene carriers

AU - Germanidis, Eirene I

AU - Schulz, Robert

AU - Quandt, Fanny

AU - Mautner, Victor F

AU - Gerloff, Christian

AU - Timmermann, Jan E

N1 - Copyright © 2021 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

PY - 2021/9

Y1 - 2021/9

N2 - OBJECTIVE: Neurofibromatosis type 1 (NF1)1 is known to cause learning deficits in affected individuals. There has been evidence linking altered gamma-aminobutyric acid (GABA)2 mediated inhibition to learning impairments in rodent models and humans with NF1. Still, evidence on the role of GABA in learning deficits associated with NF1 is inconclusive.METHODS: We examined procedural learning and motor cortex excitability through intracortical facilitation and short interval intracortical inhibition and its activity dependent modulation while performing a procedural sequence learning task in 16 asymptomatic NF1 gene carriers. We aimed to analyze potential brain-behavior correlations in a carefully selected sample of gene carriers in order to minimize confounding factors.RESULTS: Gene carriers did not differ from healthy controls when learning the task with their non-dominant hand over three days of training. Electrophysiological data did not reveal alterations in patients' inhibitory function of the motor cortex.CONCLUSIONS: In contrast with previous publications reporting various cognitive deficits in clinically asymptomatic individuals with NF1, here asymptomatic gene carriers did not show major neuropsychological or behavioral abnormalities.SIGNIFICANCE: Our results support the concept that gene carriers may not always be impaired by the condition and the population of individuals with NF1 most likely comprises different subgroups according to patients' phenotype severity.

AB - OBJECTIVE: Neurofibromatosis type 1 (NF1)1 is known to cause learning deficits in affected individuals. There has been evidence linking altered gamma-aminobutyric acid (GABA)2 mediated inhibition to learning impairments in rodent models and humans with NF1. Still, evidence on the role of GABA in learning deficits associated with NF1 is inconclusive.METHODS: We examined procedural learning and motor cortex excitability through intracortical facilitation and short interval intracortical inhibition and its activity dependent modulation while performing a procedural sequence learning task in 16 asymptomatic NF1 gene carriers. We aimed to analyze potential brain-behavior correlations in a carefully selected sample of gene carriers in order to minimize confounding factors.RESULTS: Gene carriers did not differ from healthy controls when learning the task with their non-dominant hand over three days of training. Electrophysiological data did not reveal alterations in patients' inhibitory function of the motor cortex.CONCLUSIONS: In contrast with previous publications reporting various cognitive deficits in clinically asymptomatic individuals with NF1, here asymptomatic gene carriers did not show major neuropsychological or behavioral abnormalities.SIGNIFICANCE: Our results support the concept that gene carriers may not always be impaired by the condition and the population of individuals with NF1 most likely comprises different subgroups according to patients' phenotype severity.

U2 - 10.1016/j.clinph.2021.06.004

DO - 10.1016/j.clinph.2021.06.004

M3 - SCORING: Journal article

C2 - 34284238

VL - 132

SP - 2037

EP - 2045

JO - CLIN NEUROPHYSIOL

JF - CLIN NEUROPHYSIOL

SN - 1388-2457

IS - 9

ER -