Hereditary motor and sensory neuropathies or Charcot–Marie–Tooth diseases: An update

Tazir, Mériem; Hamadouche, Tarik; Nouioua, Sonia; Mathis, Stéphane; Vallat, Jean‐Michel

doi:10.1016/j.jns.2014.10.013

Cited by 79 publications

(110 citation statements)

References 50 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Mutations in GDAP1 have been linked to Charcot-Marie-Tooth disease, a peripheral nerve disorder involving loss of muscle tissue. 39,40 So far, no associations of GDAP1 with alcohol dependence or other addictions have been reported.…”

Section: Introductionmentioning

confidence: 99%

Validation of differential GDAP1 DNA methylation in alcohol dependence and its potential function as a biomarker for disease severity and therapy outcome

et al. 2016

View full text Add to dashboard Cite

Alcohol dependence is a severe disorder contributing substantially to the global burden of disease. Despite the detrimental consequences of chronic alcohol abuse and dependence, effective prevention strategies as well as treatment options are largely missing to date. Accumulating evidence suggests that gene-environment interactions, including epigenetic mechanisms, play a role in the etiology of alcohol dependence. A recent epigenome-wide study reported widespread alterations of DNA methylation patterns in alcohol dependent patients compared to control individuals. In the present study, we validate and replicate one of the top findings from this previous investigation in an independent cohort: the hypomethylation of GDAP1 in patients. To our knowledge, this is the first independent replication of an epigenome-wide finding in alcohol dependence. Furthermore, the AUDIT as well as the GSI score were negatively associated with GDAP1 methylation and we found a trend toward a negative association between GDAP1 methylation and the years of alcohol dependency, pointing toward a potential role of GDAP1 hypomethylation as biomarker for disease severity. In addition, we show that the hypomethylation of GDAP1 in patients reverses during a short-term alcohol treatment program, suggesting that GDAP1 DNA methylation could also serve as a potential biomarker for treatment outcome. Our data add to the growing body of knowledge on epigenetic effects in alcohol dependence and support GDAP1 as a novel candidate gene implicated in this disorder. As the role of GDAP1 in alcohol dependence is unknown, this novel candidate gene should be followed up in future studies.

show abstract

Section: Introductionmentioning

confidence: 99%

Validation of differential GDAP1 DNA methylation in alcohol dependence and its potential function as a biomarker for disease severity and therapy outcome

et al. 2016

View full text Add to dashboard Cite

show abstract

“…CMT is a progressive neuralgic amyotrophic disease, and more than 75 genes responsible for CMT have been identified (20). CMT has a very slow disease progression and a relatively good prognosis.…”

Section: Discussionmentioning

confidence: 99%

Successful Treatment of Amyloid Light-chain Amyloidosis in a Charcot-Marie-Tooth Disease Patient with Lenalidomide, Cyclophosphamide, and Dexamethasone

et al. 2016

View full text Add to dashboard Cite

A 70-year-old woman with Charcot-Marie-Tooth disease (CMT) suffered from nephrotic syndrome and a renal biopsy revealed non-AA amyloid depositions that contained immunoglobulin light chain λ. Her serum λ free LC was elevated to 80.8 mg/L and she was diagnosed with primary amyloid light-chain (AL) amyloidosis. She was subsequently treated with lenalidomide, cyclophosphamide, and dexamethasone (RCD). After 14 cycles of RCD, she achieved complete remission. Her serum albumin levels gradually normalized to 3.1 g/dL. No exacerbation of neurologic symptoms related to CMT was observed. Thus, RCD may be a well-tolerated and effective regimen for treating AL amyloidosis in patients with CMT disease.

show abstract

“…CMT is associated with various genetic anomalies that lead to different types of complications including vocal cord paralysis, features of autonomic neuropathy (urinary disorders, dry cough, and pupillary abnormalities), visual disturbance, disturbance of the pyramidal tract, diabetes, and dyslipidemia. Severe cases may progress to respiratory failure, sometimes requiring mechanical ventilation [4] . Consequently, CMT requires more stringent management of anesthesia, especially regarding monitoring of muscle weakness.…”

Section: Introductionmentioning

confidence: 99%

Use of sugammadex in a patient with Charcot-Marie-Tooth disease under general anesthesia

Itoh¹,

Hoshijima²,

Takeuchi³

et al. 2018

SDS

View full text Add to dashboard Cite

Charcot-Marie-Tooth disease (CMT) is an inherited heterogeneous group of peripheral nerve disorders with characterized by weakness and sensory loss in the distal limbs. General anesthesia was induced with propofol, rocuronium, and remifentanil. At the end of the surgery, we administered a total of 150 mg sugammadex. The patient could lift his head and arms, open his eyes. Then we extubated tracheal tube. We successfully used sugammadex in a patient with CMT to reverse rocuronium-induced neuromuscular blockade. However, muscle relaxation might not be measured accurately in CMT patients. Thus, clinical findings should be referred to in the management of anesthesia.

show abstract

Hereditary motor and sensory neuropathies or Charcot–Marie–Tooth diseases: An update

Cited by 79 publications

References 50 publications

Validation of differential GDAP1 DNA methylation in alcohol dependence and its potential function as a biomarker for disease severity and therapy outcome

Validation of differential GDAP1 DNA methylation in alcohol dependence and its potential function as a biomarker for disease severity and therapy outcome

Successful Treatment of Amyloid Light-chain Amyloidosis in a Charcot-Marie-Tooth Disease Patient with Lenalidomide, Cyclophosphamide, and Dexamethasone

Use of sugammadex in a patient with Charcot-Marie-Tooth disease under general anesthesia

Contact Info

Product

Resources

About