scholarly journals Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease： cases report

2019 ◽  
Author(s):  
Youlong Liang ◽  
Jingli Liu ◽  
Daobin Cheng ◽  
Yu Wu ◽  
Liuhong Mo ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Unique Feature ◽  
Southern China ◽  
Young Male ◽  
Charcot Marie Tooth ◽  
Sensorimotor Polyneuropathy ◽  
Charcot Marie Tooth Disease ◽  
Reversible Posterior Leukoencephalopathy ◽  
Posterior Leukoencephalopathy

Abstract Background The X-linked form of Charcot-Marie-Tooth disease type 1 (CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1). Case presentation Three young male patients from Southern China with pes cavus experienced multiple episodes of transient central nervous system (CNS) dysfunction. Three patients all had reversible posterior leukoencephalopathy as detected by brain diffusion-weighted magnetic resonance imaging (MRI-DWI). Nerve conduction velocity (NCV) showed sensorimotor polyneuropathy with mixed demyelinating and axonal features. Genetic testing indicated a c.425G>A (p.Arg142Glu) or c.563 C>T (p.Thr188Ile) or c.103G>C (p.Val35Leu) mutation in GJB1. The unique feature of this report is the identification of two novel mutations: c.563 C>T and sc.103G>C of the GJB1 gene detected in two families respectively. Another unique feature is that peripheral neuropathy symptoms in the three patients were insidious and found at the onset of CNS symptoms. Conclusions Posterior leukoencephalopathy is involved in CMTX1 patients. The white matter changes in MRI of CMTX1 patients are reversible and recover later than CNS symptoms.

scholarly journals Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Youlong Liang ◽  
Jingli Liu ◽  
Daobin Cheng ◽  
Yu Wu ◽  
Liuhong Mo ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Unique Feature ◽  
Southern China ◽  
Young Male ◽  
Charcot Marie Tooth ◽  
Sensorimotor Polyneuropathy ◽  
Charcot Marie Tooth Disease ◽  
Reversible Posterior Leukoencephalopathy ◽  
Posterior Leukoencephalopathy

Abstract Background The X-linked form of Charcot-Marie-Tooth disease type 1 (CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1). Case presentation Three young male patients from Southern China with pes cavus experienced multiple episodes of transient central nervous system (CNS) dysfunction. Three patients all had reversible posterior leukoencephalopathy as detected by brain diffusion-weighted magnetic resonance imaging (MRI-DWI). Nerve conduction velocity (NCV) showed sensorimotor polyneuropathy with mixed demyelinating and axonal features. Genetic testing indicated a c.425G > A (p.Arg142Glu) or c.563 C > T (p.Thr188Ile) or c.103G > C (p.Val35Leu) mutation in GJB1. The unique feature of this report is the identification of two novel mutations: c.563 C > T and sc.103G > C of the GJB1 gene detected in two families respectively. Another unique feature is that peripheral neuropathy symptoms in the three patients were insidious and found at the onset of CNS symptoms. Conclusions Posterior leukoencephalopathy is involved in CMTX1 patients. The white matter changes in MRI of CMTX1 patients are reversible and recover later than CNS symptoms.

scholarly journals Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease： cases report

2019 ◽  
Author(s):  
Youlong Liang ◽  
Jingli Liu ◽  
Daobin Cheng ◽  
Yu Wu ◽  
Liuhong Mo ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Peripheral Neuropathy ◽  
Unique Feature ◽  
Southern China ◽  
Central Nervous System Involvement ◽  
Charcot Marie Tooth ◽  
Reversible Posterior Leukoencephalopathy ◽  
Posterior Leukoencephalopathy

Abstract Background The X-linked form of Charcot-Marie-Tooth disease type 1(CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1). Case presentation Three young male patients from Southern China with pes cavus experienced multiple episodes of transient central nervous system (CNS) dysfunction. Three patients all had reversible posterior leukoencephalopathy as detected by brain diffusion-weighted magnetic resonance imaging (MRI-DWI). Nerve conduction velocity (NCV) showed sensorimotor polyneuropathy with mixed demyelinating and axonal features. Genetic testing indicated a c.425G>A (p. Arg 142 Glu) or c.563 C>T (p. Thr 188 Ile) or c.103G>C (p. Val 35 Leu) mutation in GJB1. The unique feature of this report is two novel mutations: c.563 C>T and sc.103G>C of GJB1 gene detected in two families respectively. Another unique feature is that peripheral neuropathy symptoms in three patients were insidious and found at the onset of CNS symptoms Conclusions Central nervous system involvement in patients with CMTX1 indicates that myelin damage in the CNS and peripheral nerve system may have similar pathogenetic mechanisms.

scholarly journals Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: case reports

2019 ◽  
Author(s):  
Youlong Liang ◽  
Jingli Liu ◽  
Yu Wu ◽  
Daobin Cheng ◽  
Liuhong Mo ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Peripheral Neuropathy ◽  
Unique Feature ◽  
Central Nervous System Involvement ◽  
Charcot Marie Tooth ◽  
Reversible Posterior Leukoencephalopathy ◽  
Posterior Leukoencephalopathy ◽  
Disease Case

Abstract Background The X-linked form of Charcot-Marie-Tooth disease type 1(CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1). Case presentation Three young male patients from Southern China with pes cavus experienced multiple episodes of transient central nervous system (CNS) dysfunction. Three patients all had reversible posterior leukoencephalopathy as detected by brain diffusion-weighted magnetic resonance imaging (MRI-DWI). Nerve conduction velocity (NCV) showed sensorimotor polyneuropathy with mixed demyelinating and axonal features. Genetic testing indicated a c.425G>A (p. Arg 142 Glu) or c.563 C>T (p. Thr 188 Ile) or c.103G>C (p. Val 35 Leu) mutation in GJB1. The unique feature of this report is two novel mutations: c.563 C>T and sc.103G>C of GJB1 gene detected in two families respectively. Another unique feature is that peripheral neuropathy symptoms in three patients were insidious and found at the onset of CNS symptoms Conclusions Central nervous system involvement in patients with CMTX1 indicates that myelin damage in the CNS and peripheral nerve system may have similar pathogenetic mechanisms.

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

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.

scholarly journals Genetic variation in Charcot–Marie–Tooth genes contributes to sensitivity to paclitaxel-induced peripheral neuropathy

2020 ◽  
Vol 21 (12) ◽  
pp. 841-851
Author(s):  
Yongzhen Chen ◽  
Fang Fang ◽  
Kelley M Kidwell ◽  
Kiran Vangipuram ◽  
Lauren A Marcath ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Additive Model ◽  
Systemic Exposure ◽  
The Other ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Genetic Predictors ◽  
Paclitaxel Treatment ◽  
Tooth Disease

Aim: This study explored whether inherited variants in genes causing the hereditary neuropathy condition Charcot–Marie–Tooth disease are associated with sensitivity to paclitaxel-induced peripheral neuropathy (PN). Patients & methods: Hereditary neuropathy genes previously associated with risk of paclitaxel-induced PN were sequenced in paclitaxel-treated patients. Eight putative genetic predictors in five hereditary neuropathy genes ( ARHGEF10, SBF2, FGD4, FZD3 and NXN) were tested for association with PN sensitivity after accounting for systemic exposure and clinical variables. Results: FZD3 rs7833751, a proxy for rs7001034, decreased PN sensitivity (additive model, β = -0.41; 95% CI: -0.66 to -0.17; p = 0.0011). None of the other genetic predictors were associated with PN sensitivity. Conclusion: Our results support prior evidence that FZD3 rs7001034 is protective of PN and may be useful for individualizing paclitaxel treatment to prevent PN.

Sign in / Sign up

Export Citation Format

Share Document