Fontan Failure Secondary to Charcot-Marie-Tooth–Induced Phrenic Neuropathy

Charcot-Marie-Tooth disease comprises a vast array of defects in myelin integrity that causes progressive peripheral sensorimotor neuropathy. It is the most prevalent inherited peripheral neuropathy, and it can affect the management of coexisting medical conditions. We report the case of a 25-year-old woman who had undergone successful Fontan surgery during childhood, but her Fontan circulation failed as a result of diaphragmatic paresis caused by Charcot-Marie-Tooth disease type 1A. This diagnosis precluded cardiac transplantation.

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Faculty Opinions recommendation of Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.11064957.12018055 ◽

2011 ◽

Author(s):

Davide Pareyson ◽

Chiara Marchesi

Keyword(s):

Disease Type ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Tooth Disease

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Faculty Opinions recommendation of Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1160853.622273 ◽

2009 ◽

Author(s):

Davide Pareyson ◽

Chiara Marchesi

Keyword(s):

Ascorbic Acid ◽

Disease Type ◽

Efficacy Trial ◽

Double Blind ◽

Safety And Efficacy ◽

Double Blind Placebo ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Tooth Disease

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PRENATAL DETECTION OF A 17P11.2 DUPLICATION RESULTING FROM A RARE RECOMBINATION EVENT AND NOVEL PCR-BASED STRATEGY FOR MOLECULAR IDENTIFICATION OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

Journal of the Peripheral Nervous System ◽

10.1046/j.1529-8027.2000.00022-16.x ◽

2000 ◽

Vol 5 (4) ◽

pp. 240-240

Author(s):

R Bernard ◽

V Labelle ◽

P Negre ◽

S Tardieu ◽

Jp Azulay ◽

...

Keyword(s):

Molecular Identification ◽

Recombination Event ◽

Disease Type ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Prenatal Detection ◽

Tooth Disease

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Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A

Communications Biology ◽

10.1038/s42003-021-01839-2 ◽

2021 ◽

Vol 4 (1) ◽

Author(s):

Suzan Boutary ◽

Marie Caillaud ◽

Mévidette El Madani ◽

Jean-Michel Vallat ◽

Julien Loisel-Duwattez ◽

...

Keyword(s):

Mouse Models ◽

Disease Type ◽

Major Step ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Protein Levels ◽

Positive Effects ◽

Severity Of The Disease ◽

Tooth Disease

AbstractCharcot-Marie-Tooth disease type 1 A (CMT1A) lacks an effective treatment. We provide a therapy for CMT1A, based on siRNA conjugated to squalene nanoparticles (siRNA PMP22-SQ NPs). Their administration resulted in normalization of Pmp22 protein levels, restored locomotor activity and electrophysiological parameters in two transgenic CMT1A mouse models with different severity of the disease. Pathological studies demonstrated the regeneration of myelinated axons and myelin compaction, one major step in restoring function of myelin sheaths. The normalization of sciatic nerve Krox20, Sox10 and neurofilament levels reflected the regeneration of both myelin and axons. Importantly, the positive effects of siRNA PMP22-SQ NPs lasted for three weeks, and their renewed administration resulted in full functional recovery. Beyond CMT1A, our findings can be considered as a potent therapeutic strategy for inherited peripheral neuropathies. They provide the proof of concept for a new precision medicine based on the normalization of disease gene expression by siRNA.

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