Aisha I Abdullah PhD,  —

Mild sensory neuropathy was found in a group of Charcot-Marie-Tooth disease type 1 subtype B (CMT1B) patients with myelin protein zero (MPZ) gene mutations that cause insufficient levels of MPZ protein, a study shows. These results are in line with those…

In a mouse model of Charcot-Marie-Tooth disease type 4J (CMT4J), gene therapy administered in the first few days of life significantly prolonged survival and eased motor and nerve defects.  The study with that finding, “…

Three people from two unrelated families were found to have Charcot-Marie-Tooth disease type 2Z (CMT2Z) caused by the same MORC2 mutation, called p.Ala406Val, which was linked to severe neuropathy, a case study reported.  One patient’s condition also worsened following treatment with vinblastine…

Researchers at the University of Michigan and Vanderbilt University have found that mutant PMP22 proteins pair to form a unique, stabilized complex called a dimer. The discovery, which was made using an advanced protein analysis technique, provides new insight into PMP22’s role in…

The CMT Research Foundation will grant additional funding to a project investigating a potential gene therapy to reduce the elevated levels of the protein PMP22 that cause Charot-Marie-Tooth type 1A (CMT1A).  The funding will help support…

Delivering a healthy neurotrophin-3 (NT-3) gene to muscle cells in a mouse model of Charcot-Marie-Tooth disease type X1 (CMTX1) prevented motor function decline and eased defects in nerve and muscle structure, a study found. These results support an NT-3 gene therapy as a potential treatment…

Mutations in a mitochondrial gene that does not code for a protein have been implicated, for the first time, in the development of Charcot-Marie-Tooth (CMT) disease. These gene mutations were found in a large, indigenous Venezuelan family with more than 3,700 living members, nearly 100 of…

Blood plasma levels of the protein neurofilament light chain (NfL) are elevated in Charcot-Marie-Tooth disease (CMT) patients and correlate somewhat with disease severity, a recent study reports. These findings suggest that the protein may serve as a clinical biomarker for identifying CMT and tracking disease progression,…

A mouse model of dominant-intermediate Charcot-Marie-Tooth (CMT) disease type B displays motor symptoms that are caused mostly by muscle damage, rather than peripheral nerve cell damage, a study found. While the lack of nerve cell damage contrasts with findings in humans with…

Structural changes to neuromuscular junctions — the sites where nerve and muscle cells communicate — were associated with degeneration in a mouse model of Charcot-Marie-Tooth disease type 2 subtype D (CMT2D), a study finds. Its investigators suggest that the findings help…