Author Archives: Marta Figueiredo PhD

Walking Test Can Assess Aerobic Capacity of CMT1A Patients

People with Charcot-Marie-Tooth disease type 1A (CMT1A) show a poorer performance in cardiopulmonary exercise testing using a stationary bicycle relative to healthy individuals, a study shows. Cardiopulmonary exercise testing (CPET) is a non-invasive assessment of the cardiopulmonary system at rest and during exercise. Notably, this poorer performance appeared to be…

CMTA Hosting 20th Patient/Family Conference Online on Nov. 6

The Charcot-Marie-Tooth Association (CMTA) will hold its 20th annual Patient/Family Conference — designed to empower and connect the Charcot-Marie-Tooth community and share the latest scientific breakthroughs and resources in managing the disease — virtually on Nov. 6. This marks the second year in a row that the conference will…

Certain NEFH Mutations Linked to Atypical Form of CMT

Mutations in a particular region of the neurofilament heavy chain or NEFH gene cause an atypical, more severe form of Charcot-Marie-Tooth disease, called type 2CC or CMT2CC, according to a study reporting the cases of 30 patients from eight unrelated families. Notably, the presentation and progression of this subtype more…

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…