Charcot-Marie-Tooth disease
RSS feed 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-TĂ©lĂ©thon, to target nerve damage in … [Read more]
Results of a phase I gene therapy trial in giant axon neuropathy
The dose escalation trial evaluated the effects of a single intrathecal injection of four escalating doses of scAAV9/JeT-GAN in 14 patients over the age of six with GAN-related giant axon neuropathy. There were very few serious side-effects attributable to the treatment during the trial’s average follow-up of five and a half years. One of the … [Read more]
Whole genome sequencing facilitates genetic diagnosis in CMT
With more than 130 genes involved, the genetic diagnosis of Charcot-Marie-Tooth (CMT) disease and associated neuropathies is a complex process which is not always conclusive. According to data from a cohort of 1,515 patients monitored by Professor Mary Reilly’s team in England : 77% of patients were able to receive a genetic diagnosis, although this … [Read more]
Two new genes in Charcot-Marie-Tooth disease
The gene for a seventh aminoacyl-tRNA synthetase has just been implicated in axonal dominant Charcot-Marie-Tooth disease (CMT) thanks to whole exome sequencing of three unrelated individuals: this is asparaginyl-tRNA synthetase (NARS1); the functional study showed that it is a loss-of-function mutation. A homozygous variant affecting the splice site of the NDUFS6 gene, which encodes a … [Read more]
