scholarly journals A family with Charcot-Marie-Tooth disease (type 1): evaluating diagnostic role of nerve conduction studies

2014 ◽  
Vol 2 (3) ◽  
pp. 1147
Author(s):  
Sangeeta Gupta ◽  
Gaurav Gupta ◽  
Ovais Wadoo ◽  
Surjit Singh
Keyword(s):  
Nerve Conduction ◽  
Disease Type ◽  
Nerve Conduction Studies ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Diagnostic Role ◽  
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.

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

Case 22

2018 ◽  
Author(s):  
Bashar Katirji
Keyword(s):  
Differential Diagnosis ◽  
Clinical Practice ◽  
Nerve Conduction ◽  
Nerve Conduction Studies ◽  
Genetic Defects ◽  
Neurological Manifestations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Inherited Neuropathy ◽  
Tooth Disease

Charcot-Marie-Tooth disease is the most common inherited neuropathy encountered in clinical practice. The disorder encompasses a large number of subtypes; most share common neurological manifestations. Charcot-Marie-Tooth disease is often subdivided into many subtypes based on pathophysiological or inheritance patterns. There are demyelinating and axonal types, as well as dominant, recessive, or X-linked forms. This case presents a typical patient with Charcot-Marie-Tooth disease and highlights the neurological findings. This is followed by emphasis on the findings seen on nerve conduction studies showing the differences between the demyelinating, axonal, and intermediate types. A list of the known genetic defects described so far is presented. A working and practical differential diagnosis and algorithm is also suggested.

scholarly journals Rapid detection of a recombinant hotspot associated with Charcot–Marie–Tooth disease type 1A duplication by a PCR-based DNA test

1998 ◽  
Vol 44 (2) ◽  
pp. 270-274 ◽  
Author(s):  
Jan-Gowth Chang ◽  
Yuh-Jyh Jong ◽  
Wen-Pin Wang ◽  
Jyh-Chwan Wang ◽  
Chaur-Jong Hu ◽  
...  
Keyword(s):  
Rapid Detection ◽  
Disease Type ◽  
Chinese Patients ◽  
Charcot Marie Tooth ◽  
Dna Test ◽  
Charcot Marie Tooth Disease ◽  
Repeat Sequences ◽  
Tooth Disease

Abstract A 1.5-Mb duplication on chromosome 17p11.2-p12 (CMT1A duplication) caused by a misalignment of the CMT1A repeat sequences (CMT1A-REPs) is associated with Charcot–Marie–Tooth disease type 1A (CMT1A). A hotspot of crossover breakpoints located in a 3.2-kb region of the CMT1A-REPs accounts for three-quarters of the rearrangements in CMT1A patients. We developed a PCR-based diagnostic method to detect a recombination hotspot associated with the CMT1A duplication. Thirty-one CMT1A Chinese patients from different families and 50 healthy people over 65 years of age were studied. Twenty-seven of the 31 cases demonstrated the 3.2-kb hotspot crossover, of which there were two subgroups. The type 1 crossover breakpoint was located at the distal CMT1A-REP around the PmeI site, and accounted for 24 of the 27 cases with a 3.2-kb hotspot crossover in CMT1A duplication patients. The type 2 crossover breakpoint was located at the distal CMT1A-REP around the base 3625 region, accounting for 3 of the 27 cases. The results correlated very well with the results of Southern transfer analysis. This study has a potentially important role in the diagnosis of CMT1A disease.

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