Charcot-Marie-Tooth disease
RSS feedHearing difficulties found in CMT 1 disease
While clinical studies suggest that patients with Charcot-Marie-Tooth (CMT) disease may suffer from ‘hidden’ deafness, a recent Dutch study used self-questionnaires to assess the hearing difficulties of these patients and their repercussions in everyday situations. The study included 42 patients with CMT1, 30 with CMT2 and 72 matched controls. Patients with CMT1 were found to … [Read more]
Correlation between mutated protein domain and clinical phenotype in CMT X1
A French retrospective analysis studied genotype/phenotype correlations in 275 adults with Charcot-Marie-Tooth X1 (CMT X1) disease managed in the 13 largest neuromuscular disease reference centres. Patients were classified into three categories according to the protein domain affected by the mutation in the GJB1 gene encoding connexin 32: transmembrane domain (25 variants for 72 patients), extracellular … [Read more]
CGG expansions in LRP12 implicated in hereditary peripheral neuropathies
A search for CGG repeats in the LRP12, GIPC and RILPL1 genes in 1555 cases of hereditary peripheral neuropathy without a genetic diagnosis found 44 cases of CGG repeats in the LRP12 gene (and none in the GIPC and RILPL1 genes): the number of CGG repeats, less than 100 in 93.2% of cases, ranged from … [Read more]
Nerve imaging can help differentiate between acquired and inherited neuropathies
New Zealand researchers used ultrasound to measure the cross-sectional area of the sural and fibular nerves in order to differentiate between acquired and hereditary nerve pathologies: a control group of 34 healthy subjects was set up and compared with three other groups, one consisting of 17 patients with CANVAS syndrome (including ataxia and neuronopathy), the … [Read more]
Encouraging results from a pilot study of thiamine in CMT
Thiamine, or vitamin B1, is important for nerve cell function. Administered as a dietary supplement, it is thought to have beneficial effects in a number of neurological diseases. Russian researchers have studied its therapeutic value in Charcot-Marie-Tooth disease. A pilot study involving 15 patients with CMT 1A showed an improvement in grip strength thanks to … [Read more]
Review of gene therapy approaches in CMT
An increasing number of gene therapy products are being developed for Charcot-Marie-Tooth disease. This article provides an overview of the main approaches under study: a single phase I/II trial is underway in the United States in CMT 2S, involving 10 patients, twelve products are in preclinical development, for which the choice of vector and route … [Read more]
A natural history of TRPV4-related hereditary neuropathies
The Inherited Neuropathies Consortium reports the clinical data of 68 patients with TRPV4-related neuromuscular disease (Charcot-Marie-Tooth 2C disease, scapuloperoneal spinal muscular atrophy and congenital distal spinal muscular atrophy) collected as part of a natural history study (NCT01193075) conducted in the United States, Italy and the United Kingdom. The age of onset of TRPV4-related hereditary neuropathies … [Read more]
Advances in Charcot-Marie-Tooth disease – June 2024
Charcot-Marie-Tooth disease is a group of genetic diseases that cause damage to the peripheral nerves (nerves that connect the spinal cord to muscles and sensory organs) of the arms and legs (neuropathy). It is also known as hereditary motor and sensory neuropathy (HMSN). Common symptoms are muscle weakness and wasting in the legs (feet and … [Read more]
Italian study confirms phenotypic heterogeneity of hereditary P0 neuropathy
Italian clinicians participating in the national registry of Charcot-Marie-Tooth (CMT) disease have compiled the clinical and biological data of patients in whom a pathological variant of the MPZ gene (encoding the P0 protein) has been identified: the registry sample represented a total of 186 patients, they all belonged to one of the five clusters of … [Read more]
NanoCur: a curcumin derivative being studied in CMT 1A
Curcumin is known to have antioxidant and neuroprotective effects, but it degrades too quickly in the body to make a good drug candidate. NanoCur is a compound developed from curcumin, with improved pharmacokinetic characteristics. It was developed by researchers at the University of Limoges, with the support of the AFM-Téléthon, to target nerve damage in … [Read more]
