Beyond the muscular involvement in non-dystrophic myotonias. The emerging role of neuromodulation

Simona Portaro; Antonino Naro; Alessia Bramanti; Antonino Leo; Alfredo Manuli; Tina Balletta; Antonia Trinchera; Placido Bramanti; Rocco Salvatore Calabrò

doi:10.3233/RNN-170796

Beyond the muscular involvement in non-dystrophic myotonias. The emerging role of neuromodulation

Simona Portaro, Antonino Naro, Alessia Bramanti, Antonino Leo, Alfredo Manuli, Tina Balletta, Antonia Trinchera, Placido Bramanti, Rocco Salvatore Calabrò

IRCCS Centro Neurolesi "Bonino Pulejo"

Research output: Contribution to journal › Article › peer-review

Abstract

BACKGROUND: The central nervous system involvement, in terms of a maladaptive sensory-motor plasticity, is well known in patients with dystrophic myotonias (DMs). To date, there are no data suggesting a central nervous system involvement in non-dystrophic myotonias (NDMs).

OBJECTIVE: To investigate sensory-motor plasticity in patients with Myotonia Congenita (MC) and Paramyotonia Congenita (PMC) with or without mexiletine.

METHODS: Twelve patients with a clinical, genetic, and electromyographic evidence of MC, fifteen with PMC, and 25 healthy controls (HC) were included in the study. TMS on both primary motor cortices (M1) and a rapid paired associative stimulation (rPAS) paradigm were carried out to assess M1 excitability and sensory-motor plasticity.

RESULTS: patients showed a higher cortical excitability and a deterioration of the topographic specificity of rPAS aftereffects, as compared to HCs. There was no correlation among neurophysiological and clinical-demographic characteristics. Noteworthy, the patients who were under mexiletine showed a minor impairment of the topographic specificity of rPAS aftereffects as compared to those who did not take the drug.

CONCLUSION: our findings could suggest the deterioration of cortical sensory-motor plasticity in patients with NDMs as a trait of the disease.

Original language	English
Pages (from-to)	459-467
Number of pages	9
Journal	Restorative Neurology and Neuroscience
Volume	36
Issue number	4
DOIs	https://doi.org/10.3233/RNN-170796
Publication status	Published - 2018

Keywords

Adult
Analysis of Variance
Anti-Arrhythmia Agents/therapeutic use
Electromyography
Evoked Potentials, Motor/drug effects
Female
Follow-Up Studies
Humans
Male
Mexiletine/therapeutic use
Motor Cortex/physiology
Myotonia Congenita/drug therapy
Myotonic Disorders/physiopathology
Neuronal Plasticity/physiology
Transcranial Magnetic Stimulation
Young Adult

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10.3233/RNN-170796

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title = "Beyond the muscular involvement in non-dystrophic myotonias. The emerging role of neuromodulation",

abstract = "BACKGROUND: The central nervous system involvement, in terms of a maladaptive sensory-motor plasticity, is well known in patients with dystrophic myotonias (DMs). To date, there are no data suggesting a central nervous system involvement in non-dystrophic myotonias (NDMs).OBJECTIVE: To investigate sensory-motor plasticity in patients with Myotonia Congenita (MC) and Paramyotonia Congenita (PMC) with or without mexiletine.METHODS: Twelve patients with a clinical, genetic, and electromyographic evidence of MC, fifteen with PMC, and 25 healthy controls (HC) were included in the study. TMS on both primary motor cortices (M1) and a rapid paired associative stimulation (rPAS) paradigm were carried out to assess M1 excitability and sensory-motor plasticity.RESULTS: patients showed a higher cortical excitability and a deterioration of the topographic specificity of rPAS aftereffects, as compared to HCs. There was no correlation among neurophysiological and clinical-demographic characteristics. Noteworthy, the patients who were under mexiletine showed a minor impairment of the topographic specificity of rPAS aftereffects as compared to those who did not take the drug.CONCLUSION: our findings could suggest the deterioration of cortical sensory-motor plasticity in patients with NDMs as a trait of the disease.",

keywords = "Adult, Analysis of Variance, Anti-Arrhythmia Agents/therapeutic use, Electromyography, Evoked Potentials, Motor/drug effects, Female, Follow-Up Studies, Humans, Male, Mexiletine/therapeutic use, Motor Cortex/physiology, Myotonia Congenita/drug therapy, Myotonic Disorders/physiopathology, Neuronal Plasticity/physiology, Transcranial Magnetic Stimulation, Young Adult",

author = "Simona Portaro and Antonino Naro and Alessia Bramanti and Antonino Leo and Alfredo Manuli and Tina Balletta and Antonia Trinchera and Placido Bramanti and Calabr{\`o}, {Rocco Salvatore}",

year = "2018",

doi = "10.3233/RNN-170796",

language = "English",

volume = "36",

pages = "459--467",

journal = "Restorative Neurology and Neuroscience",

issn = "0922-6028",

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number = "4",

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T1 - Beyond the muscular involvement in non-dystrophic myotonias. The emerging role of neuromodulation

AU - Portaro, Simona

AU - Naro, Antonino

AU - Bramanti, Alessia

AU - Leo, Antonino

AU - Manuli, Alfredo

AU - Balletta, Tina

AU - Trinchera, Antonia

AU - Bramanti, Placido

AU - Calabrò, Rocco Salvatore

PY - 2018

Y1 - 2018

N2 - BACKGROUND: The central nervous system involvement, in terms of a maladaptive sensory-motor plasticity, is well known in patients with dystrophic myotonias (DMs). To date, there are no data suggesting a central nervous system involvement in non-dystrophic myotonias (NDMs).OBJECTIVE: To investigate sensory-motor plasticity in patients with Myotonia Congenita (MC) and Paramyotonia Congenita (PMC) with or without mexiletine.METHODS: Twelve patients with a clinical, genetic, and electromyographic evidence of MC, fifteen with PMC, and 25 healthy controls (HC) were included in the study. TMS on both primary motor cortices (M1) and a rapid paired associative stimulation (rPAS) paradigm were carried out to assess M1 excitability and sensory-motor plasticity.RESULTS: patients showed a higher cortical excitability and a deterioration of the topographic specificity of rPAS aftereffects, as compared to HCs. There was no correlation among neurophysiological and clinical-demographic characteristics. Noteworthy, the patients who were under mexiletine showed a minor impairment of the topographic specificity of rPAS aftereffects as compared to those who did not take the drug.CONCLUSION: our findings could suggest the deterioration of cortical sensory-motor plasticity in patients with NDMs as a trait of the disease.

AB - BACKGROUND: The central nervous system involvement, in terms of a maladaptive sensory-motor plasticity, is well known in patients with dystrophic myotonias (DMs). To date, there are no data suggesting a central nervous system involvement in non-dystrophic myotonias (NDMs).OBJECTIVE: To investigate sensory-motor plasticity in patients with Myotonia Congenita (MC) and Paramyotonia Congenita (PMC) with or without mexiletine.METHODS: Twelve patients with a clinical, genetic, and electromyographic evidence of MC, fifteen with PMC, and 25 healthy controls (HC) were included in the study. TMS on both primary motor cortices (M1) and a rapid paired associative stimulation (rPAS) paradigm were carried out to assess M1 excitability and sensory-motor plasticity.RESULTS: patients showed a higher cortical excitability and a deterioration of the topographic specificity of rPAS aftereffects, as compared to HCs. There was no correlation among neurophysiological and clinical-demographic characteristics. Noteworthy, the patients who were under mexiletine showed a minor impairment of the topographic specificity of rPAS aftereffects as compared to those who did not take the drug.CONCLUSION: our findings could suggest the deterioration of cortical sensory-motor plasticity in patients with NDMs as a trait of the disease.

KW - Adult

KW - Analysis of Variance

KW - Anti-Arrhythmia Agents/therapeutic use

KW - Electromyography

KW - Evoked Potentials, Motor/drug effects

KW - Female

KW - Follow-Up Studies

KW - Humans

KW - Male

KW - Mexiletine/therapeutic use

KW - Motor Cortex/physiology

KW - Myotonia Congenita/drug therapy

KW - Myotonic Disorders/physiopathology

KW - Neuronal Plasticity/physiology

KW - Transcranial Magnetic Stimulation

KW - Young Adult

U2 - 10.3233/RNN-170796

DO - 10.3233/RNN-170796

M3 - Article

C2 - 29889082

SN - 0922-6028

VL - 36

SP - 459

EP - 467

JO - Restorative Neurology and Neuroscience

JF - Restorative Neurology and Neuroscience

IS - 4

ER -

Beyond the muscular involvement in non-dystrophic myotonias. The emerging role of neuromodulation

Abstract

Keywords

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