Serum Neurofilament Light Chain as a Biomarker of Brain Injury in Wilson's Disease: Clinical and Neuroradiological Correlations.
Wilson disease
biomarkers
copper
magnetic resonance imaging
neurofilament light chain
Journal
Movement disorders : official journal of the Movement Disorder Society
ISSN: 1531-8257
Titre abrégé: Mov Disord
Pays: United States
ID NLM: 8610688
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
revised:
11
01
2022
received:
24
10
2021
accepted:
14
01
2022
pubmed:
4
2
2022
medline:
24
5
2022
entrez:
3
2
2022
Statut:
ppublish
Résumé
Clinical scales and neuroimaging are used to monitor nervous system injury in Wilson's disease, while data on serum markers are scarce. To investigate whether serum concentrations of neurofilament light chain (sNfL) correlate with brain injury in Wilson's disease patients. In 61 treatment-naïve patients, the Unified Wilson's Disease Rating Scale and a validated semiquantitative brain magnetic resonance imaging scale were compared with concentrations of sNfL. Concentrations of sNfL were significantly higher in patients with neurological disease compared with patients presenting with other forms (39.7 ± 73.4 pg/mL vs. 13.3 ± 9.2 pg/mL; P < 0.01). Moreover, the sNfL concentration positively correlated with neurological severity scores and with acute and chronic brain damage based on the neuroimaging scale. Neurofilament light chain concentrations may be used as a marker of brain injury in Wilson's disease, in addition to the clinical and neuroimaging disease severity scales. © 2022 International Parkinson and Movement Disorder Society.
Sections du résumé
BACKGROUND
Clinical scales and neuroimaging are used to monitor nervous system injury in Wilson's disease, while data on serum markers are scarce.
OBJECTIVE
To investigate whether serum concentrations of neurofilament light chain (sNfL) correlate with brain injury in Wilson's disease patients.
METHODS
In 61 treatment-naïve patients, the Unified Wilson's Disease Rating Scale and a validated semiquantitative brain magnetic resonance imaging scale were compared with concentrations of sNfL.
RESULTS
Concentrations of sNfL were significantly higher in patients with neurological disease compared with patients presenting with other forms (39.7 ± 73.4 pg/mL vs. 13.3 ± 9.2 pg/mL; P < 0.01). Moreover, the sNfL concentration positively correlated with neurological severity scores and with acute and chronic brain damage based on the neuroimaging scale.
CONCLUSIONS
Neurofilament light chain concentrations may be used as a marker of brain injury in Wilson's disease, in addition to the clinical and neuroimaging disease severity scales. © 2022 International Parkinson and Movement Disorder Society.
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1074-1079Informations de copyright
© 2022 International Parkinson and Movement Disorder Society.
Références
European Association for the Study of The Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol 2012;56(3):671-685.
Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139-142.
Czlonkowska A, Litwin T, Dziezyc K, Karlinski M, Bring J, Bjartmar C. Characteristics of newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson's Disease Rating Scale. BMC Neurol 2018;18:34
Czlonkowska A, Litwin T, Dusek P, et al. Wilson disease. Nat Rev Dis Primers 2018;4:21
Bruha R, Marecek Z, Pospisilova L, et al. Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. Liver Int 2011;31:83-91.
Czlonkowska A, Tarnacka B, Litwin T, Gajda J, Rodo M. Wilson's disease - cause of mortality in 164 patients during 1992-2003 observation period. J Neurol 2005;252:698-703.
Beinhardt S, Leiss W, Stattermayer AF, et al. Long-term outcomes of patients with Wilson disease in a large Austrian cohort. Clin Gastroenterol Hepatol 2014;12:683-689.
Czlonkowska A, Litwin T. Wilson disease - currently used anticopper therapy. Handb Clin Neurol 2017;142:181-191.
Guillaud O, Dumortier J, Sobesky R, et al. Long term results of liver transplantation for Wilson's disease: experience in France. J Hepatol 2014;60:579-589.
Medici V, Mirante VG, Fassati LR, et al. Liver transplantation for Wilson's disease: the burden of neurological and psychiatric disorders. Liver Transpl 2005;11:1056-1063.
Schilsky ML. Long-term outcome for Wilson disease: 85% good. Clin Gastroenterol Hepatol 2014;12:690-691.
Weiss KH, Stremmel W. Clinical considerations for an effective medical therapy in Wilson's disease. Ann N Y Acad Sci 2014;1315:81-85.
Litwin T, Dusek P, Czlonkowska A. Symptomatic treatment of neurologic symptoms in Wilson disease. Handb Clin Neurol 2017;142:211-223.
Litwin T, Dzieżyc K, Karliński M, Chabik G, Czepiel W, Czlonkowska A. Early neurological worsening in patients with Wilson's diseases. J Neurol Sci 2015;355:162-167.
Litwin T, Dzieżyc K, Czlonkowska A. Wilson disease - treatment perspectives. Ann Transl Med 2019;7:S68
Weiss KH, Askari FK, Czlonkowska A, et al. Bis-choline tetrathiomolybdate in patients with Wilson's disease: an open label, multicentre, phase 2 study. Lancet Gastroenterol Hepatol 2017;2:869-876.
Woimant F, Djebrani-Oussedik N, Poujois A. New tools for Wilson's disease diagnosis: exchangeable copper fraction. Ann Transl Med 2019;7:S70
Mohr I, Weiss KH. Biochemical markers for the diagnosis and monitoring of Wilson disease. Clin Biochem Rev 2019;59:59-77.
Członkowska A, Tarnacka B, Moller JC, Leinweber B, Bandmann O, Woimant F, Oertel WH. Unified Wilson's Disease Rating Scale - proposal for the neurological scoring of Wilson's disease patients. Neurol Neurochir Pol 2007;41:1-12.
Dusek P, Smolinski L, Redzia-Ogrodnik B, et al. Semiquantitative scale for assessing brain MRI abnormalities in Wilson disease: a validation study. Mov Disord 2020;35:994-1001.
Wang H, Wang W, Shi H, Han L, Pan L. Blood neurofilament light chain in Parkinson's disease and atypical parkinsonisms: a protocol for systematic review and meta-analysis. Medicine 2020;99:e21871
Khalil M, Teunissen CE, Otto M, et al. Neurofilaments as biomarkers in neurological disorders. Nat Rev Neurol 2018;14:S77-S89.
van der Ende EL, Meeter LH, Poos JM, et al. Genetic frontotemporal dementia initiative (GENFI), serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study. Lancet Neurol 2019;18:1103-1111.
Disanto G, Barro C, Benkert P, et al. Serum neurofilament light: a biomarker of neuronal damage in multiple sclerosis. Ann Neurol 2017;81:857-870.
Lu CH, Macdonald-Wallis C, Gray E, et al. Neurofilament light chain: prognostic biomarker in amyotrophic lateral sclerosis. Neurology 2015;84:2247-2257.
Barro C, Benkert P, Disanto G, et al. Serum neurofilament as a predictor of disease worsening and brain and spinal cord atrophy in multiple sclerosis. Brain 2018;141:2382-2391.
Shribman S, Heller C, Burrows M, et al. Plasma neurofilament light as biomarker of neurological involvement in Wilson's disease. Mov Disord 2020;36:503-508.
Gauthier A, Viel S, Perret M, et al. OFSEP investigators, comparison of Simoa™ and Ella™ to assess serum neurofilament-light chain in multiple sclerosis. Ann Clin Transl Neur 2021;8:1141-1150.
Brureau A, Blachard-Bregeon V, Pech C. NF-L in cerebrospinal fluid and serum is a biomarker of neuronal damage in an inducible mouse model of neurodegeneration. Neurobiol Dis 2017;104:73-84.