News

Measure of myelin damage may aid demyelinating CMT diagnosis

A measure of the distribution of demyelination — myelin loss — may improve the diagnosis of demyelinating Charcot-Marie-Tooth disease (CMT) and better distinguish it from a related rare disease, a study in Japan found. Specifically, the compound muscle action potential (CMAP) duration ratio was significantly lower in people with CMT…

Electrical Stimulation Lowers Protein Clumps, Aids Myelin: CMT1A Model

Electrical stimulation reduced toxic PMP22 protein clumping and promoted myelin-making activity in a cell model of Charcot-Marie-Tooth disease type 1A (CMT1A), a new study reports. “We expect that the findings … will play a significant role in the potential clinical translation of an electroceutical [electricity-based] treatment for CMT1A disease,”…

Joint Research Grant From MDA, CMTRF Will Focus on CMT4B1

The Muscular Dystrophy Association (MDA) and the Charcot-Marie-Tooth Research Foundation (CMTRF) have awarded a joint research grant that will examine cellular changes in Charcot-Marie-Tooth (CMT) disease with aberrant myelin. The research team led by Alessandra Bolino, Ph.D., at San Raffaele Hospital, Italy received a $263,450 grant for…

Rare Mutation in ALS-linked SOD1 Gene Helps Lead to CMT Diagnosis

A rare mutation in the SOD1 gene helped doctors to diagnose a woman with Charcot-Marie-Tooth (CMT) disease, a study reports. Although SOD1 mutations are commonly associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS), clinical assessments confirmed a CMT diagnosis. Researchers hoped this report would raise awareness…

Novel MRI Measures for Leg Muscle Fat Linked to CMT1A Severity

Novel parameters for MRI scans that measure the degree of muscle fat in specific regions of the legs showed a positive correlation with clinical indicators of disease severity and disability in people with Charcot-Marie-Tooth disease type 1A (CMT1A), a study reports. The findings suggest that these new MRI parameters…