Author Archives: Jose Marques Lopes PhD

Even if not experiencing overt clinical signs, Charcot-Marie-Tooth Disease Type 1A (CMT1A) patients able to walk show respiratory muscle weakness associated with phrenic nerve damage, according to a new study. The findings in that study also revealed that having lower diaphragm strength and function is associated with more advanced…

Two boys with neurological deficits suggestive of acute ischemic stroke were ultimately diagnosed with Charcot-Marie-Tooth disease type X (CMTX) following the detection of white matter lesions characteristic with the disorder, a recent case report shows. The study, “X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms,”…

The key protein mutated in patients with Charcot-Marie-Tooth (CMT) disease type 2Y works to break down cellular complexes via a sort of “hand over hand” mechanism, a study found. The newly identified structure of the p97 protein may help in determining new targets for possible therapies, its researchers added.

A study in Korean patients found four previously unreported mutations causing Charcot–Marie–Tooth disease type 4C (CMT4C), which were associated with manifestations such as foot deformities, walking difficulties, and slowed nerve conduction. The research, “Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients,” appeared in…

People with Charcot-Marie-Tooth disease (CMT) type 4B1 have earlier onset and faster progression of disease — as well as more common respiratory complications and greater delay in achieving motor milestones — when compared with those with CMT4B2, a study reports. The study, titled “A multicentre retrospective…

A combination of gene therapy and a strategy called RNA interference (RNAi) successfully repaired disease-related alterations in nerve cells derived from patients with Charcot-Marie-Tooth disease type 2A (CMT2A), according to a study. The study, “RNAi/gene therapy combined approach as therapeutic strategy for Charcot-Marie-Tooth 2A,” was presented…

Patients with dominant intermediate Charcot-Marie-Tooth disease type C (DI-CMTC) experience progressive nerve damage, disability, and gait and quality of life deterioration, according to a follow-up study over 16 years. The findings, “Prospective 16-year Longitudinal Study of Dominant Intermediate CMT Type C Neuropathy,” were presented at the…

Treatment of Charcot-Marie-Tooth (CMT) disease represents a substantial economic burden, which increases with age, disease severity, comorbidities, obesity and perceived impairments, according to a German study. The study, “Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany,” was published in the journal Neurology. The team…

A large kindred (group of related people) of Charcot Marie Tooth disease type 1B (CMT1B) patients revealed an increasing incidence of facial spasms and intense nerve pain with age, two uncommon conditions in the disease. The study, “A Charcot Marie Tooth Type 1B Kindred Associated with…

Mutations in the MFN2 gene are associated with altered connections between mitochondria and another cellular structure called endoplasmic reticulum (ER). These correlate with Charcot–Marie–Tooth disease type 2A (CMT2A) severity, as suggested by a study in patient-derived cells. The study, “MFN2 mutations in Charcot–Marie–Tooth disease alter…