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      Plasma Neurofilament Light as a Biomarker of Neurological Involvement in Wilson's Disease

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          Abstract

          Background

          Outcomes are unpredictable for neurological presentations of Wilson's disease (WD). Dosing regimens for chelation therapy vary and monitoring depends on copper indices, which do not reflect end‐organ damage.

          Objective

          To identify a biomarker for neurological involvement in WD.

          Methods

          Neuronal and glial‐specific proteins were measured in plasma samples from 40 patients and 38 age‐matched controls. Patients were divided into neurological or hepatic presentations and those with recent neurological presentations or deterioration associated with non‐adherence were subcategorized as having active neurological disease. Unified WD Rating Scale scores and copper indices were recorded.

          Results

          Unlike copper indices, neurofilament light (NfL) concentrations were higher in neurological than hepatic presentations. They were also higher in those with active neurological disease when controlling for severity and correlated with neurological examination subscores in stable patients.

          Conclusion

          NfL is a biomarker of neurological involvement with potential use in guiding chelation therapy and clinical trials for novel treatments. © 2020 University College London. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society

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          Most cited references17

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          Neurofilaments as biomarkers in neurological disorders

          Michael Khalil, Charlotte E. Teunissen, Markus Otto … (2018)
          Neuroaxonal damage is the pathological substrate of permanent disability in various neurological disorders. Reliable quantification and longitudinal follow-up of such damage are important for assessing disease activity, monitoring treatment responses, facilitating treatment development and determining prognosis. The neurofilament proteins have promise in this context because their levels rise upon neuroaxonal damage not only in the cerebrospinal fluid (CSF) but also in blood, and they indicate neuroaxonal injury independent of causal pathways. First-generation (immunoblot) and second-generation (enzyme-linked immunosorbent assay) neurofilament assays had limited sensitivity. Third-generation (electrochemiluminescence) and particularly fourth-generation (single-molecule array) assays enable the reliable measurement of neurofilaments throughout the range of concentrations found in blood samples. This technological advancement has paved the way to investigate neurofilaments in a range of neurological disorders. Here, we review what is known about the structure and function of neurofilaments, discuss analytical aspects and knowledge of age-dependent normal ranges of neurofilaments and provide a comprehensive overview of studies on neurofilament light chain as a marker of axonal injury in different neurological disorders, including multiple sclerosis, neurodegenerative dementia, stroke, traumatic brain injury, amyotrophic lateral sclerosis and Parkinson disease. We also consider work needed to explore the value of this axonal damage marker in managing neurological diseases in daily practice.
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            EASL Clinical Practice Guidelines: Wilson's disease.

            (2012)
            This Clinical Practice Guideline (CPG) has been developed to assist physicians and other healthcare providers in the diagnosis and management of patients with Wilson's disease. The goal is to describe a number of generally accepted approaches for diagnosis, prevention, and treatment of Wilson's disease. Recommendations are based on a systematic literature review in the Medline (PubMed version), Embase (Dialog version), and the Cochrane Library databases using entries from 1966 to 2011. The Grades of Recommendation, Assessment, Development, and Evaluation (GRADE) system used in other EASL CPGs was used and set against the somewhat different grading system used in the AASLD guidelines (Table 1A and B). Unfortunately, there is not a single randomized controlled trial conducted in Wilson's disease which has an optimal design. Thus, it is impossible to assign a high or even a moderate quality of evidence to any of the questions dealt with in these guidelines. The evaluation is mostly based on large case series which have been reported within the last decades. Copyright © 2011 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
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              Diagnosis and phenotypic classification of Wilson disease.

              Peter Ferenci, Karel Caca, Georgios Loudianos … (2003)
              Wilson disease is an inherited autosomal recessive disorder of hepatic copper metabolism leading to copper accumulation in hepatocytes and in extrahepatic organs such as the brain and the cornea. Originally Wilson disease was described as a neurodegerative disorder associated with cirrhosis of the liver. Later, Wilson disease was observed in children and adolescents presenting with acute or chronic liver disease without any neurologic symptoms. While diagnosis of neurologic Wilson disease is straightforward, it may be quite difficult in non-neurologic cases. Up to now, no single diagnostic test can exclude or confirm Wilson disease with 100% certainty. In 1993, the gene responsible for Wilson disease was cloned and localized on chromosome 13q14.3 (MIM277900) (1, 2). The Wilson disease gene ATP7B encodes a P-type ATPase. More than 200 disease causing mutations of this gene have been described so far (3). Most of these mutations occur in single families, only a few are more frequent (like H1069Q, 3400delC and 2299insC in Caucasian (4-6) or R778L in Japanese (7), Chinese and Korean patients). Studies of phenotype-genotype relations are hampered by the lack of standard diagnostic criteria and phenotypic classifications. To overcome this problem, a working party discussed these problems in depth at the 8th International Meeting on Wilson disease and Menkes disease in Leipzig/Germany (April 16-18, 2001). After the meeting, a preliminary draft of a consensus report was mailed to all active participants and their comments were incorporated in the final text.
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                Author and article information

                Contributors
                Thomas T. Warner: t.warner@ucl.ac.uk
                Journal
                Journal ID (nlm-ta): Mov Disord
                Journal ID (iso-abbrev): Mov Disord
                Journal ID (doi): 10.1002/(ISSN)1531-8257
                Journal ID (publisher-id): MDS
                Title: Movement Disorders
                Publisher: John Wiley & Sons, Inc. (Hoboken, USA )
                ISSN (Print): 0885-3185
                ISSN (Electronic): 1531-8257
                Publication date (Electronic): 20 October 2020
                Publication date (Print): February 2021
                Volume: 36
                Issue: 2 ( doiID: 10.1002/mds.v36.2 )
                Pages: 503-508
                Affiliations
                [ 1 ] Department of Clinical and Movement Neurosciences Reta Lila Weston Institute, UCL Queen Square Institute of Neurology London United Kingdom
                [ 2 ] Dementia Research Centre, Department of Neurodegenerative Disease UCL Queen Square Institute of Neurology London United Kingdom
                [ 3 ] Department of Neurodegenerative Disease UK Dementia Research Institute, UCL Queen Square Institute of Neurology London United Kingdom
                [ 4 ] Department of Clinical Chemistry Northern General Hospital Sheffield United Kingdom
                [ 5 ] UCL Institute for Liver and Digestive Health Royal Free Hospital and UCL London United Kingdom
                [ 6 ] Department of Clinical Neurosciences University of Cambridge and Cambridge University Hospitals Trust Cambridge United Kingdom
                [ 7 ] Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre University of Manchester Manchester United Kingdom
                [ 8 ] Departments of Geriatric Medicine and Nuclear Medicine University of Duisburg‐Essen Duisburg Germany
                [ 9 ] Department of Brain Sciences Imperial College London London United Kingdom
                [ 10 ] Nuffield Department of Clinical Neurosciences University of Oxford Oxford United Kingdom
                [ 11 ] Departamento de Neurología Pontificia Universidad Católica de Chile Santiago Chile
                [ 12 ] Sunnybrook Health Sciences Centre Sunnybrook Research Institute, University of Toronto Toronto Ontario Canada
                [ 13 ] Neuro‐Ophthalmology National Hospital for Neurology and Neurosurgery London United Kingdom
                [ 14 ] Department of Clinical Biochemistry Southampton General Hospital Southampton United Kingdom
                [ 15 ] Clinical Neurochemistry Laboratory Sahlgrenska University Hospital Mölndal Sweden
                [ 16 ] Department of Psychiatry and Neurochemistry Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg Mölndal Sweden
                [ 17 ] Sheffield Institute for Translational Neuroscience, University of Sheffield Sheffield United Kingdom
                Author notes
                [*] [* ] Correspondence to: Dr. Thomas T. Warner, Reta Lila Weston Institute, 1 Wakefield Street, London WCN1 1PJ, United Kingdom; E‐mail: t.warner@ 123456ucl.ac.uk

                Author information
                https://orcid.org/0000-0001-7216-8679
                Article
                Publisher ID: MDS28333
                DOI: 10.1002/mds.28333
                PMC ID: 8436757
                PubMed ID: 33078859
                SO-VID: bc929205-c812-400f-a215-87ba2e019075
                Copyright © © 2020 University College London. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                Date revision received : 14 September 2020
                Date received : 31 July 2020
                Date accepted : 21 September 2020
                Page count
                Figures: 1, Tables: 1, Pages: 5, Words: 3828
                Funding
                Funded by: Association of British Neurologists
                Funded by: Canadian Institutes of Health Research , doi 10.13039/501100000024;
                Funded by: European Research Council , doi 10.13039/100010663;
                Funded by: Guarantors of Brain , doi 10.13039/501100000627;
                Funded by: Reta Lila Weston Institute
                Funded by: Wellcome Trust , doi 10.13039/100010269;
                Funded by: Wilson's Disease Support Group UK
                Categories
                Subject: Brief Report
                Subject: Regular Issue Articles
                Subject: Brief Reports
                Custom metadata
                source-schema-version-number 2.0
                cover-date February 2021
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:6.0.7 mode:remove_FC converted:13.09.2021

                ScienceOpen disciplines: Medicine
                Keywords: wilson's disease,biomarkers,neurofilament light
                Data availability:
                ScienceOpen disciplines: Medicine
                Keywords: wilson's disease, biomarkers, neurofilament light

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