scholarly journals Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients

2012 ◽  
Vol 46 (5) ◽  
pp. 698-704 ◽  
Author(s):  
Mitra Tavakoli ◽  
Andy Marshall ◽  
Siddharth Banka ◽  
Ioannis N. Petropoulos ◽  
Hassan Fadavi ◽  
...  
Keyword(s):  
Confocal Microscopy ◽  
Disease Type ◽  
Small Fiber Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Small Fiber ◽  
Corneal Confocal Microscopy ◽  
Tooth Disease

Pain and small fiber function in charcot-marie-tooth disease type 1A

2014 ◽  
Vol 50 (3) ◽  
pp. 366-371 ◽  
Author(s):  
Matilde Laurà ◽  
Elspeth J. Hutton ◽  
Julian Blake ◽  
Michael P. Lunn ◽  
Zoe Fox ◽  
...  
Keyword(s):  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Small Fiber ◽  
Tooth Disease

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

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.

Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric charcot-marie-tooth disease type 1A

2010 ◽  
Vol 42 (2) ◽  
pp. 262-267 ◽  
Author(s):  
Joshua Burns ◽  
Adam Scheinberg ◽  
Monique M. Ryan ◽  
Kristy J. Rose ◽  
Robert A. Ouvrier
Keyword(s):  
Botulinum Toxin ◽  
Randomized Trial ◽  
Disease Type ◽  
Pes Cavus ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

1994 ◽  
Vol 31 (10) ◽  
pp. 811-815 ◽  
Author(s):  
E Nelis ◽  
V Timmerman ◽  
P De Jonghe ◽  
L Muylle ◽  
J J Martin ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Extended Family ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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