TY  - JOUR
A1  - Millere, E
A1  - Rots, D
A1  - Simrén, J
A1  - Ashton, NJ
A1  - Kupats, E
A1  - Micule, I
A1  - Priedite, V
A1  - Kurjane, N
A1  - Blennow, K
A1  - Gailite, L
A1  - Zetterberg, H
A1  - Kenina, V
JF  - European Journal of Neurology
UR  - https://doi.org/10.1111/ene.14689
SN  - 1468-1331
IS  - 3
N1  - This version is the author accepted manuscript. For information on re-use, please refer to the publisher?s terms and conditions.
VL  - 28
SP  - 974
KW  - Polyneuropathy
KW  -  genetic and inherited disorders
N2  - BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a chronic, slowly progressing disorder. The lack of specific disease progression biomarkers limits the execution of clinical trials. However, neurofilament light chain (NfL) has been suggested as a potential biomarker for peripheral nervous system disorders. METHODS: Ninety-six CMT patients and 60 healthy controls were enrolled in the study. Disease severity assessment included clinical evaluation with CMT Neuropathy Score version 2 (CMTNSv2). Blood plasma NfL concentrations were measured using the single molecule array (Simoa) NfL assay. RESULTS: The NfL concentration was significantly higher in the CMT patient group than in the controls (p<0.001). Of the CMT patients, ones with type CMTX1 had a higher NfL level than those in the two other analysed subgroups (CMT1A and other CMT types) (p=0.0498). The NfL concentration had a significant but weak correlation with the CMTNSv2 (rs =0.25, p=0.012). In one CMT patient with an extremely elevated NfL level, overlap with chronic inflammatory demyelinating polyneuropathy was suspected. ROC analysis showed that an NfL concentration of 8.9 pg/mL could be used to discriminate CMT patients from controls, with an area under the curve of 0.881. CONCLUSIONS: Our study confirmed that the plasma NfL concentration is significantly higher in CMT patients than in controls. Plasma NfL concentration was found to significantly, albeit weakly, reflect the clinical severity of CMT. In the future, NfL may be used, either individually or collaboratively, as a biomarker in the clinical context of suspected CMT; however, several issues need to be addressed first.
ID  - discovery10118247
AV  - public
Y1  - 2021/03//
EP  - 981
TI  - Plasma neurofilament light chain as a potential biomarker in Charcot?Marie?Tooth disease
ER  -