Journal
NEUROLOGY
Volume 90, Issue 6, Pages E518-E524Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000004932
Keywords
-
Categories
Funding
- Wellcome Trust [110043/Z/15/Z]
- Medical Research Council [G0601943]
- National Institutes of Neurologic Diseases and Stroke and Office of Rare Diseases [U54NS065712]
- Swedish Research Council
- European Research Council
- Swedish State Support for Clinical Research
- Wellcome Trust Postdoctoral Fellowship for Clinicians [110043/Z/15/Z]
- Medical Research Council (MRC)
- MRC Centre grant [G0601943]
- INC is a part of the NCATS Rare Diseases Clinical Research Network (RDCRN) [U54NS065712]
- Office of Rare Diseases Research (ORDR), NCATS
- NCATS
- NINDS
- National Institute for Health Research University College London Hospitals Biomedical Research Centre
- Wellcome Trust [110043/Z/15/Z] Funding Source: Wellcome Trust
- Medical Research Council [UKDRI-1003] Funding Source: researchfish
- Wellcome Trust [110043/Z/15/Z] Funding Source: researchfish
- MRC [UKDRI-1003] Funding Source: UKRI
Ask authors/readers for more resources
ObjectiveTo 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.MethodsBlood 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.ResultsPlasma 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.ConclusionThere 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available