Author Archives: Vanda Pinto PhD

NFL Biomarker May Be Unsuitable to Measure CMT1A Outcomes

Blood levels of the protein neurofilament light chain (NFL), a biomarker of several neurological disorders, may not be suitable to measure outcomes in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), a recent study suggests. The study, “A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in…

Gene Editing Prevented NfL Protein Accumulation in CMT2E Motor Neurons

The gene-editing technology CRISPR/Cas9 effectively inactivated a specific mutation in the NEFL gene that causes Charcot-Marie-Tooth disease type 2E (CMT2E), a study reports. Correction of this mutation prevented the harmful buildup of neurofilament light chain (NfL) protein in motor neurons — specialized nerve cells that control muscle function —…

New LITAF Gene Mutation, Unusual CMT1C Symptoms Reported in Case

A European man was finally diagnosed with a rare mutation causing Charcot-Marie-Tooth disease type 1C (CMT1C), although his initial symptoms, including weakness of only one arm, were considered uncharacteristic of this disorder, a case report described. The study, “Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new…

CMT, in Costly Error, Can Be Mistaken for Similar Rare Disorder

A sizable number of people at 16 hospitals in three European countries were wrongly diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) and treated for that disorder, only to learn through later genetic testing that they actually had Charcot–Marie–Tooth disease (CMT), a study reported. Its researchers spotted features specific to CMT…