Author Archives: Marta Figueiredo PhD

Study Explores Common, Targetable Hallmark of CMT2 Subtypes

Abnormalities in cellular transport and in mitochondria (the cell’s powerhouses) are a common feature of motor neurons derived from people with four different subtypes of Charcot-Marie-Tooth disease type 2 (CMT2), a study shows. Notably, treatment with a suppressor of DLK — a molecule involved in mitochondrial damage and transport…

Study of CMT Nerve-Muscle Signals May Pave Way to Therapy Trial

NMD Pharma, in collaboration with Aarhus University in Denmark and The Ohio State University, initiated an observational study to assess whether Charcot-Marie-Tooth disease (CMT) patients have deficits in the communication between nerve and muscle cells. If confirmed, the company plans to launch clinical trials testing one of its experimental…

Double HSPB1 Mutations Linked to CMT2F in Two Patients

Researchers identified double disease-causing HSPB1 mutations in two unrelated adults with Charcot-Marie-Tooth disease type 2 subtype F (CMT2F), according to a case report. While mutations in the HSPB1 gene have been associated with CMT2F, they are usually found in only one of the gene’s copies, in which case it’s…

Foundation Supports Promising Preclinical Work in CMT

The Hereditary Neuropathy Foundation is supporting preclinical work focused on mutations in the CNTNAP1 gene, which were linked previously to symptoms of Charcot-Marie-Tooth (CMT) disease, it announced in a press release. CMT is part of a large group of disorders called neuropathies, which are diseases characterized by nerve damage.

CMT UK Offering Video Series of Exercises for Home Use

To promote physical activity in people with Charcot-Marie-Tooth (CMT) disease, the charity CMT UK shared seven exercise videos that patients can carry out in the comfort of their home. The exercises are presented by Rebekah Knight, a physiotherapist diagnosed with CMT1A, the most common form of CMT…