ArticleAnnals of clinical and translational neurology2020
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Types and Concentrations of Blood-Based Biomarkers in Adults With Peripheral Neuropathies: A Systematic Review and Meta-analysis.JAMA network open · 2022Pooled it
- Article
- Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026Review
- A Distinct Immunological Signature in Late-Onset Myasthenia Gravis: Insights from an Exploratory Proteomics Study.Annals of neurology · 2026Article
- Pathologic and Therapeutic Schwann Cells.Cells · 2025Review
- Feasibility, Validity, and Reliability of the Virtual CMT Infant Toddler Scale (vCMTInfS): A Remote Evaluation of Infants/Toddlers With CMT.Journal of the peripheral nervous system : JPNS · 2025Article
- Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy.Annals of clinical and translational neurology · 2025Review
- Review
- Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches.International journal of molecular sciences · 2024Review
- p62/sequestosome-1 as a severity-reflecting plasma biomarker in Charcot-Marie-Tooth disease type 1A.Scientific reports · 2024Article
- Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.Neurogenetics · 2023Article
- CMT1A current gene therapy approaches and promising biomarkers.Neural regeneration research · 2023Review
- Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.Annals of neurology · 2023Review
- NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.Brain : a journal of neurology · 2022Article
- Blood biomarkers of peripheral neuropathy.Acta neurologica Scandinavica · 2022Review
- Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy.Frontiers in neurology · 2022Article
- Mechanisms and Treatments in Demyelinating CMT.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Fluid Biomarkers for Monitoring Structural Changes in Polyneuropathies: Their Use in Clinical Practice and Trials.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Review
- MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.Neurology · 2021Article
Corrections and comments
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Authors and funding
19 authors at 4 institutions in 2 countries.
Funding
Abstract
objectiveDevelopment of biomarkers for Charcot-Marie-Tooth (CMT) disease is critical for implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a genomic duplication surrounding the PMP22 gene. A recent report (Neurology 2018;90:e518-3524) showed elevation of neurofilament light (NfL) in plasma of CMT1A disease patients, which correlated with disease severity. However, no plasma/serum biomarker has been identified that is specific to Schwann cells, the most directly affected cells in CMT1A.
methodsWe used the Olink immuno PCR platform to profile CMT1A patient (n = 47, 2 cohorts) and normal control plasma (n = 41, two cohorts) on five different Olink panels to screen 398 unique proteins.
resultsThe TMPRSS5 protein (Transmembrane protease serine 5) was elevated 2.07-fold (P = <0.0001) in two independent cohorts of CMT1A samples relative to controls. TMPRSS5 is most highly expressed in Schwann cells of peripheral nerve. Consistent with early myelination deficits in CMT1A, TMPRSS5 was not significantly correlated with disease score (CMTES-R, CMTNS-R), nerve conduction velocities (Ulnar CMAP, Ulnar MNCV), or with age. TMPRSS5 was not significantly elevated in smaller sample sets from patients with CMT2A, CMT2E, CMT1B, or CMT1X. The Olink immuno PCR assays confirmed elevated levels of NfL (average 1.58-fold, P < 0.0001), which correlated with CMT1A patient disease score.
interpretationThese data identify the first Schwann cell-specific protein that is elevated in plasma of CMT1A patients, and may provide a disease marker and a potentially treatment-responsive biomarker with good disease specificity for clinical trials.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.