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      Characteristics of a newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson’s Disease Rating Scale

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          Abstract

          Background

          Wilson disease is a rare genetic disorder in which impaired copper excretion results in toxic copper levels and tissue damage. Manifestations are primarily hepatic and/or neuropsychiatric, with a variety of neurological phenotypes. The aim of this study was to characterize neurological signs of Wilson disease in newly diagnosed patients and to determine whether they correlated with disability, liver function, and copper metabolism.

          Methods

          Fifty-three treatment-naïve patients recently diagnosed with Wilson disease who exhibited neurological symptoms were included. Neurological manifestations were characterized by examination in terms of symptom type and degree of neurological impairment (Unified Wilson’s Disease Rating Scale [UWDRS] Part III) and correlated with degree of disability (UWDRS Part II), abnormalities in copper parameters and hepatic status.

          Results

          Most patients (62.3%) exhibited tremor and ataxia, whereas 15.1% were dystonic, and 11.3% had parkinsonism. Discrete or unclassified signs only were observed in 11.3% of patients. A good correlation between disability (UWDRS Part II) and neurological impairment (UWDRS Part III) was observed (Pearson r = 0.84). However, there was a lack of correlation when either disability or neurological impairment were analyzed with copper parameters or liver impairment.

          Conclusions

          The predominant neurological manifestations in this cohort of newly diagnosed Wilson disease patients were ataxia and tremor. Neurological impairment measured was highly correlated with the level of disability. However, hepatic manifestations of Wilson disease and copper levels did not appear to be correlated with neurological status and disability. These results highlight the challenges faced when assessing Wilson disease with its highly variable symptomatology.

          Electronic supplementary material

          The online version of this article (10.1186/s12883-018-1039-y) contains supplementary material, which is available to authorized users.

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          Most cited references 27

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          Diagnosis and treatment of Wilson disease: an update.

           M Schilsky,  ,  J. Roberts (2008)
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            Neurological manifestations in Wilson's disease: Report of 119 cases.

            We describe the neurological manifestations of 119 patients with WD (93 index cases and 26 affected family members) seen between 1963 and 2004. The mean age at symptoms onset was 19.6 years (range, 7-37 years). Medical records were reviewed for the patient's first neurological examination. The most frequent neurological manifestations observed were dysarthria (91%), gait disturbance (75%), risus sardonicus (72%), dystonia (69%), rigidity (66%), tremor (60%), and dysphagia (50%). Less frequent manifestations were chorea (16%) and athetosis (14%). Rare neurological presentations were seizures (4.2%), and pyramidal signs (3%). Copyright 2006 Movement Disorder Society.
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              An improved colorimetric enzymatic assay of ceruloplasmin.

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                Author and article information

                Contributors
                +48 691 85 99 56 , czlonkow@ipin.edu.pl
                tomlit@medprakt.pl
                kdziezyc@op.pl
                mkarlinski@ipin.edu.pl
                Johan.Bring@statisticon.se
                carl.bjartmar@wtx.se
                Journal
                BMC Neurol
                BMC Neurol
                BMC Neurology
                BioMed Central (London )
                1471-2377
                5 April 2018
                5 April 2018
                2018
                : 18
                Affiliations
                [1 ]ISNI 0000 0001 2237 2890, GRID grid.418955.4, 2nd Department of Neurology, , Institute of Psychiatry and Neurology, ; 02 957 Warsaw, Poland
                [2 ]ISNI 0000000113287408, GRID grid.13339.3b, Department of Experimental and Clinical Pharmacology, , Medical University of Warsaw, ; Warsaw, Poland
                [3 ]GRID grid.467077.5, Statisticon AB i Uppsala, ; Uppsala, Sweden
                [4 ]Wilson Therapeutics AB, Stockholm, Sweden
                Article
                1039
                10.1186/s12883-018-1039-y
                5887239
                29621974
                © The Author(s). 2018

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                Funding
                Funded by: Statistical analysis, performed by Johan Bring (Statisticon AB), was funded by Wilson Therapeutics AB. CB is an employee of Wilson Therapeutics AB. Wilson Therapeutics AB funded the article-processing charge.
                Categories
                Research Article
                Custom metadata
                © The Author(s) 2018

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