biostudies-literatureJennings MJWarren Y. Soper Charitable TrustAlvin Segal Family FoundationGenomics Technology PlatformMinistry of Science and Higher Education of the Russian FederationAtaxia UKNational Institutes of HealthCanadian Institutes of Health ResearchInternational Centre for Genomic Medicine in Neuromuscular DiseasesStoneygate TrustEuropean Research CouncilUniversity of AntwerpEvelyn TrustNIHR Cambridge Biomedical Research CentreCMT Research FoundationNINDS NIH HHSCanada Foundation for InnovationCharcot-Marie-Tooth AssociationAddenbrookes Charitable TrustMcGill UniversityMuscular Dystrophy AssociationLily FoundationWellcome Trust InvestigatorMedical Research CouncilMedical Foundation Queen ElisabethWellcome TrustCanadian Institutes of Health Research and Muscular Dystrophy CanadaEuropean Regional Development FundNewton Fund3999-4015https://www.ebi.ac.uk/biostudies/studies/S-EPMC9679171biostudies-literatureUnknown145(11)Molecular markers scalable for clinical use are critical for the development of effective treatments and the design of clinical trials. Here, we identify proteins in sera of patients and mouse models with Charcot-Marie-Tooth disease (CMT) with characteristics that make them suitable as biomarkers in clinical practice and therapeutic trials. We collected serum from mouse models of CMT1A (C61 het), CMT2D (GarsC201R, GarsP278KY), CMT1X (Gjb1-null), CMT2L (Hspb8K141N) and from CMT patients with genotypes including CMT1A (PMP22d), CMT2D (GARS), CMT2N (AARS) and other rare genetic forms of CMT. The severity of neuropathy in the patients was assessed by the CMT Neuropathy Examination Score (CMTES). We performed multitargeted proteomics on both sample sets to identify proteins elevated across multBrain : a journal of neurologyNCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.PMC9679171075-10-2019-08338694779257R37 NS054154MR/S005021/1577497FDN-167281F31 NS100328MR/N027302/2950-232279MR/N027302/1ZHORVATH109915/Z/15/ZG100142109915/A/15/Z603003264PROJELF 384123095481215-20014MR/V009346/1G041416NMR/N025431/1Schara UStavrou MPogoryelova OLochmuller HGruneboom ABurgess RWHathazi DGess BHorvath RKagiava AJennings MJBorchers CHTimmerman VSpaulding ELDe Winter VVendredy LKleopa KARoos AfalseNCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.Molecular markers scalable for clinical use are critical for the development of effective treatments and the design of clinical trials. Here, we identify proteins in sera of patients and mouse models with Charcot-Marie-Tooth disease (CMT) with characteristics that make them suitable as biomarkers in clinical practice and therapeutic trials. We collected serum from mouse models of CMT1A (C61 het), CMT2D (GarsC201R, GarsP278KY), CMT1X (Gjb1-null), CMT2L (Hspb8K141N) and from CMT patients with genotypes including CMT1A (PMP22d), CMT2D (GARS), CMT2N (AARS) and other rare genetic forms of CMT. The severity of neuropathy in the patients was assessed by the CMT Neuropathy Examination Score (CMTES). We performed multitargeted proteomics on both sample sets to identify proteins elevated across mult2022-01-01T00:00:00Z2022 Nov2026-06-21T03:10:20.091Z2025-02-19T04:20:10.213ZS-EPMC96791713514837910.1093/brain/awac055