Mutation analysis in Charcot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity

2001 ◽  
Vol 248 (5) ◽  
pp. 410-415 ◽  
Author(s):  
P. Young ◽  
K. Grote ◽  
G. Kuhlenb�umer ◽  
O. Debus ◽  
H. Kurlemann ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Point Mutations ◽  
Disease Type ◽  
Phenotypic Heterogeneity ◽  
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.

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

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

1995 ◽  
Vol 90 (6) ◽  
pp. 645-649 ◽  
Author(s):  
A. A. W. M. Gabre�ls-Festen ◽  
P. A. Bolhuis ◽  
J. E. Hoogendijk ◽  
L. J. Valentijn ◽  
E. J. H. M. Eshuis ◽  
...  
Keyword(s):  
Point Mutations ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Morphological Phenotype

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 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.

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population

2006 ◽  
Vol 70 (6) ◽  
pp. 516-523 ◽  
Author(s):  
C Casasnovas ◽  
I Banchs ◽  
J Corral ◽  
JA Martínez-Matos ◽  
V Volpini
Keyword(s):  
Molecular Analysis ◽  
Disease Type ◽  
Spanish Population ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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