Neurological manifestations in Wilson’s disease –possible treatment options for symptoms

Litwin, Tomasz; Dušek, Petr; Członkowska, Anna

doi:10.1080/21678707.2016.1188003

Cited by 16 publications

(27 citation statements)

References 78 publications

(242 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The management of patients with neurological WD is associated with therapeutic challenges, particularly for patients with tremor, parkinsonism, and dystonia, which are key factors contributing to the UWDRS score [ 10 , 27 ]. Recommended initial pharmacological treatment for WD comprises chelating agents such as D-penicillamine or trientine, and zinc salts that reduce intestinal copper absorption.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2018

Self Cite

View full text Add to dashboard Cite

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

show abstract

Section: Discussionmentioning

confidence: 99%

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

et al. 2018

Self Cite

View full text Add to dashboard Cite

show abstract

“…Psychotic symptoms occurring as the first manifestation of WD could present both diagnostic and therapeutic challenges. 58 – 62 Since approximately 3% of first-episode psychosis cases may be due to ‘organic’ causes, some diagnostic guidelines suggest screening for WD in first-episode psychotic patients. However, such procedures are not routine, and serum ceruloplasmin level, often performed as a single test, is not sufficiently sensitive.…”

Section: Psychiatric Symptoms Of Wdmentioning

confidence: 99%

“… 1 Clozapine can also lead to dose-related seizures, which is an important safety issue in this context, since 6–8% of WD patients also suffer from epilepsy. 62 …”

Section: Psychiatric Symptoms Of Wdmentioning

confidence: 99%

“…Aripiprazole has very good safety profile, but results are conflicting in case studies of its use for WD treatment. 62 , 66 Olanzapine and quetiapine are antipsychotics with moderate risk when used in patients with liver injury. 56 Amisulpride and sulpiride might be interesting options because these benzamides are not metabolized in the liver and are assessed to carry a low risk of extrapyramidal symptoms, especially at lower doses.…”

Section: Psychiatric Symptoms Of Wdmentioning

confidence: 99%

“… 18 Propranolol could be an interesting option in WD due to its multimodal action that includes efficacy for both neurologic (tremor) and liver symptoms (portal hypertension). 1 , 62 …”

Section: Psychiatric Symptoms Of Wdmentioning

confidence: 99%

See 2 more Smart Citations

Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment

Litwin

Dušek

Szafrański³

et al. 2018

Therapeutic Advances in Psychopharmacology

Self Cite

View full text Add to dashboard Cite

Wilson’s disease (WD) is an inherited metabolic disorder related to disturbances of copper metabolism, and predominantly presents with liver and neuropsychiatric symptoms. In most cases it can be successfully treated with anti-copper agents, and both liver function and neuropsychiatric symptoms typically improve. Treatment guidelines for WD include recommendations for anti-copper treatment as well as for the treatment of liver failure symptoms. Recently, recommendations for treatment of the neurological symptoms of WD have also been proposed. Although most WD patients present with psychiatric symptoms at some stage of the disease, currently there are no guidelines for the treatment of the psychiatric manifestations. Treatment of the psychiatric symptoms of WD is often guided by general psychiatric experience, which typically glosses over the specificity of WD, and can result in severe neurological and/or hepatic complications. Here we review and discuss the possible treatments available for the mood disturbances, psychosis, behavioral and cognitive disorders that can occur in WD, as well as their efficacy.

show abstract

Inhibitory rTMS applied on somatosensory cortex in Wilson’s disease patients with hand dystonia

et al. 2017

View full text Add to dashboard Cite

Hand dystonia is a common complication of Wilson's disease (WD), responsible for handwriting difficulties and disability. Alteration of sensorimotor integration and overactivity of the somatosensory cortex have been demonstrated in dystonia. This study investigated the immediate after effect of an inhibitory repetitive transcranial magnetic stimulation (rTMS) applied over the somatosensory cortex on the writing function in WD patients with hand dystonia. We performed a pilot prospective randomized double-blind sham-controlled crossover rTMS study. A 20-min 1-Hz rTMS session, stereotaxically guided, was applied over the left somatosensory cortex in 13 WD patients with right dystonic writer's cramp. After 3 days, each patient was crossed-over to the alternative treatment. Patients were clinically evaluated before and immediately after each rTMS session with the Unified Wilson's Disease rating scale (UWDRS), the Writers' Cramp Rating Scale (WCRS), a specifically designed scale for handwriting difficulties in Wilson's disease patients (FAR, flow, accuracy, and rhythmicity evaluation), and a visual analog scale (VAS) for handwriting discomfort. No significant change in UWDRS, WCRS, VAS, or FAR scores was observed in patients treated with somatosensory inhibitory rTMS compared to the sham protocol. The FAR negatively correlated with UWDRS (r = -0.6; P = 0.02), but not with the WCRS score, disease duration, MRI diffusion lesions, or with atrophy scores. In our experimental conditions, a single inhibitory rTMS session applied over somatosensory cortex did not improve dystonic writer cramp in WD patients.

show abstract

Neurological manifestations in Wilson’s disease –possible treatment options for symptoms

Cited by 16 publications

References 78 publications

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

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

Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment

Inhibitory rTMS applied on somatosensory cortex in Wilson’s disease patients with hand dystonia

Contact Info

Product

Resources

About