Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case

2018 ◽  
Vol 28 (12) ◽  
pp. 1016-1021 ◽  
Author(s):  
Richa Kulshrestha ◽  
Natalie Forrester ◽  
Thalia Antoniadi ◽  
Tracey Willis ◽  
Sethil Kumar Sethuraman ◽  
...  
Keyword(s):  
Late Onset ◽  
Disease Type ◽  
Atypical Case ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Diaphragmatic Weakness ◽  
Tooth Disease

A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot–Marie–Tooth disease type 1

2001 ◽  
Vol 184 (2) ◽  
pp. 149-153 ◽  
Author(s):  
Tsuyoshi Yoshihara ◽  
Fumio Kanda ◽  
Masahiko Yamamoto ◽  
Hiroyuki Ishihara ◽  
Ken-ichiro Misu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Growth Response ◽  
Late Onset ◽  
Early Growth ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Early Growth Response ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Pressure Palsy as the Initial Presentation in a Case of Late-onset Charcot-Marie-Tooth Disease Type 1A.

1997 ◽  
Vol 36 (7) ◽  
pp. 501-503 ◽  
Author(s):  
Yoshinori ABE ◽  
Tohru IKEGAMI ◽  
Kiyoshi HAYASAKA ◽  
Yoshihiro TANNO ◽  
Takako WATANABE ◽  
...  
Keyword(s):  
Late Onset ◽  
Disease Type ◽  
Initial Presentation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Pressure Palsy ◽  
Tooth Disease

Late-Onset Friedreich’s Ataxia (LOFA) Mimicking Charcot–Marie–Tooth Disease Type 2: What Is Similar and What Is Different?

2016 ◽  
Vol 16 (2) ◽  
pp. 599-601 ◽  
Author(s):  
Rubens Paulo A. Salomão ◽  
Maria Thereza Drumond Gama ◽  
Flávio Moura Rezende Filho ◽  
Fernanda Maggi ◽  
José Luiz Pedroso ◽  
...  
Keyword(s):  
Late Onset ◽  
Friedreich’S Ataxia ◽  
Disease Type ◽  
Friedreich's Ataxia ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
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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