Charcot-Marie-Tooth disease
RSS feedItalian 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]
A promising aldose reductase inhibitor in SORD-related neuropathy
Identified in 2020, the SORD gene is involved in a relatively frequent form of axonal CMT (CMT 2) and distal hereditary motor neuropathy (dHMN). It is involved in the transformation of sorbitol (toxic to nerves if accumulated in excess) into fructose. A European and American Phase III placebo-controlled clinical trial is evaluating AT-007, an aldose … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-TĂ©lĂ©thon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Charcot-Marie-Tooth disease: one in two orthotic devices prescribed is no longer used over time
An online survey of 266 Italian patients suffering from Charcot–Marie–Tooth (CMT) disease shows the low use of lower–limb orthoses: 70% of participants had received a prescription, 59% said they had experienced complications (discomfort, pain) related to the orthosis, 19% did not wear their orthoses, 31% eventually abandoned them. A French survey also showed that only … [Read more]
A very rare form of Charcot-Marie-Tooth disease found in Africa
In line with previous work on the prevalence of Charcot-Marie-Tooth (CMT) disease on the African continent, Malian and South African researchers report the observation of a very rare form of CMT: for the first time, the same variant of the CADM3 gene (Tyr172Cys) has been identified both in a Malian family and in a patient … [Read more]
An ultra-early case of mitofusin 2 deficiency
French researchers report the exceptional case of a foetus suffering from a deficiency in mitofusin 2, a mitochondrial protein encoded by the MFN2 gene already implicated in autosomal, dominant or recessive forms of Charcot-Marie-Tooth (CMT) disease: the diagnosis of multiple cerebral malformations was made antenatally after the demonstration of lissencephaly, polymicrogyria and cerebellar atrophy, a … [Read more]
