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Updated: Feb 15, 2026

Corneal Confocal Microscopy: A Novel Non-invasive Technique to Quantify Small Fibre Pathology in Peripheral Neuropathies
Published on: January 3, 2011
Plasma neurofilament light chain concentration in the inherited peripheral neuropathies
Åsa Sandelius1, Henrik Zetterberg1, Kaj Blennow1
1From the Department of Psychiatry and Neurochemistry (Å.S., H.Z., K.B.), Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg; Clinical Neurochemistry Laboratory (H.Z., K.B.), Sahlgrenska University Hospital, Mölndal, Sweden; Department of Molecular Neuroscience (H.Z.), UCL Institute of Neurology; Trauma and Neuroscience Centre (R.A., A.M.), Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London; and MRC Centre for Neuromuscular Diseases (M.L., M.M.R., A.M.R.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Objective:
To perform a cross-sectional study to determine whether plasma neurofilament light chain (NfL) concentration is elevated in patients with Charcot-Marie-Tooth disease (CMT) and if it correlates with disease severity.
Methods:
Blood samples were collected from 75 patients with CMT and 67 age-matched healthy controls over a 1-year period. Disease severity was measured using the Rasch modified CMT Examination and neuropathy scores. Plasma NfL concentration was measured using an in-house-developed Simoa assay.
Results:
Plasma NfL concentration was significantly higher in patients with CMT (median 26.0 pg/mL) compared to healthy controls (median 14.6 pg/mL, p < 0.0001) and correlated with disease severity as measured using the Rasch modified CMT examination (r = 0.43, p < 0.0001) and neuropathy (r = 0.37, p = 0.044) scores. Concentrations were also significantly higher when subdividing patients by genetic subtype (CMT1A, SPTLC1, and GJB1) or into demyelinating or axonal forms compared to healthy controls.
Conclusion:
There are currently no validated blood biomarkers for peripheral neuropathy. The significantly raised plasma NfL concentration in patients with CMT and its correlation with disease severity suggest that plasma NfL holds promise as a biomarker of disease activity, not only for inherited neuropathies but for peripheral neuropathy in general.
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