scholarly journals A longitudinal and cross‐sectional study of plasma neurofilament light chain concentration in Charcot‐Marie‐Tooth disease

2021 ◽  
Author(s):  
AM Rossor ◽  
M Kapoor ◽  
H Wellington ◽  
EL Spaulding ◽  
JN Sleigh ◽  
...  
Keyword(s):  
Light Chain ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Neurofilament Light Chain ◽  
Cross Sectional ◽  
Neurofilament Light ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E

2001 ◽  
Vol 49 (2) ◽  
pp. 245-249 ◽  
Author(s):  
Peter De Jonghe ◽  
Irina Mersivanova ◽  
Eva Nelis ◽  
Jurgen Del Favero ◽  
Jean-Jacques Martin ◽  
...  
Keyword(s):  
Light Chain ◽  
Gene Mutations ◽  
Disease Type ◽  
Chain Gene ◽  
Neurofilament Light Chain ◽  
Neurofilament Light ◽  
Light Chain Gene ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Plasma neurofilament light chain as a potential biomarker in Charcot‐Marie‐Tooth disease

2021 ◽  
Author(s):  
Elina Millere ◽  
Dmitrijs Rots ◽  
Joel Simrén ◽  
Nicholas J. Ashton ◽  
Einars Kupats ◽  
...  
Keyword(s):  
Light Chain ◽  
Neurofilament Light Chain ◽  
Neurofilament Light ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Potential Biomarker ◽  
Tooth Disease

A novel out-of-frame mutation in the neurofilament light chain gene ( NEFL) does not result in Charcot-Marie-Tooth disease type 2E

Neurogenetics ◽  
2005 ◽  
Vol 6 (1) ◽  
pp. 49-50 ◽  
Author(s):  
Cinzia Andrigo ◽  
Chiara Boito ◽  
Paola Prandini ◽  
Maria Luisa Mostacciuolo ◽  
Gabriele Siciliano ◽  
...  
Keyword(s):  
Light Chain ◽  
Disease Type ◽  
Chain Gene ◽  
Neurofilament Light Chain ◽  
Neurofilament Light ◽  
Light Chain Gene ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Plasma neurofilament light chain concentration in the inherited peripheral neuropathies

Neurology ◽  
2018 ◽  
Vol 90 (6) ◽  
pp. e518-e524 ◽  
Author(s):  
Åsa Sandelius ◽  
Henrik Zetterberg ◽  
Kaj Blennow ◽  
Rocco Adiutori ◽  
Andrea Malaspina ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Disease Severity ◽  
Light Chain ◽  
Cross Sectional Study ◽  
Healthy Controls ◽  
Neurofilament Light Chain ◽  
Cross Sectional ◽  
Neurofilament Light ◽  
Charcot Marie Tooth Disease ◽  
Inherited Neuropathies

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.

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