The Pragmatic Treatment of Wilson's Disease

Aggarwal, Annu; Bhatt, Mohit

doi:10.1002/mdc3.12003

Cited by 31 publications

(19 citation statements)

References 64 publications

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“…It is important to emphasize that botulinum toxin use can be dangerous in the treatment of cervical or oromandibular dystonia in patients with spinocerebellar ataxias; this is because dysphagia is very common in this group of neurodegenerative diseases . In some of the genetic dystonia‐ataxia syndromes, including SCA‐ATXN2, SCA‐ATXN3, and ataxia‐telangiectasia, dystonic features can show a marked response to levodopa and illustrate the rationale of a trial with this drug . Indeed, dopamine replacement therapy was established in 16 of 140 (11%) patients with spinocerebellar ataxia, with a partial response in 75% of the cases .…”

Section: Methodsmentioning

confidence: 99%

Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

Rossi

Balint

Vernetti

et al. 2018

Movement Disord Clin Pract

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Background Dystonia and ataxia are manifestations of numerous disorders, and indeed, an ever‐expanding spectrum of genes causing diseases that encompass dystonia and ataxia are discovered with the advances of genetic techniques. In recent years, a pathophysiological link between both clinical features and the role of the cerebellum in the genesis of dystonia, in some cases, has been proposed. In clinical practice, the genetic diagnosis of dystonia‐ataxia syndromes is a major issue for genetic counseling, prognosis and, occasionally, specific treatment. Methods For this pragmatic and educational review, we conducted a comprehensive and structured literature search in Pubmed, OMIM, and GeneReviews using the key words “dystonia” and “ataxia” to identify those genetic diseases that may combine dystonia with ataxia. Results There are a plethora of genetic diseases causing dystonia and ataxia. We propose a series of clinico‐radiological algorithms to guide their differential diagnosis depending on the age of onset, additional neurological or systemic features, and imaging findings. We suggest a sequential diagnostic approach to dystonia‐ataxia syndromes. We briefly highlight the pathophysiological links between dystonia and ataxia and conclude with a review of specific treatment implications. Conclusions The clinical approach presented in this review is intended to improve the diagnostic success of clinicians when faced with patients with dystonia‐ataxia syndromes.

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Section: Methodsmentioning

confidence: 99%

Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

Rossi

Balint

Vernetti

et al. 2018

Movement Disord Clin Pract

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“…[1][2][3][4]6,[27][28][29] In 18-68% cases, neurological symptoms may be the first clinical manifestation of WD leading to diagnosis of the disease. [1][2][3]27] The neurological symptoms of WD can also manifest during the course of recognized and treated disease as a result of treatment failure due to either noncompliance with anticopper treatment or neurological deterioration that is sometimes observed after the initiation of the treatment.…”

Section: Neurological Symptoms Of Wd and Symptomatic Treatment Optionsmentioning

confidence: 99%

“…[1][2][3][4][5][6][7][8][9][10][11][12] Such treatment (if the patient is compliant) usually results in liver function test normalization and neurological recovery, or stabilization during the lifelong anti-copper treatment in most patients. [1][2][3][4][5][6][7][8][9][10][11][12] However, some patients require treatment with additional drugs targeting health problems that may arise in the course of WD (e.g. liver failure symptoms such as coagulopathy, pancytopenia, or anemia; skin changes; neurological symptoms such as dysphagia, tremor, dystonia, or sialorrhea; and psychiatric symptoms including depression and bipolar disorders).…”

Section: Introductionmentioning

confidence: 99%

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

Litwin

Dušek²,

Członkowska

2016

Expert Opinion on Orphan Drugs

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“…Clinically, WD manifests as acute and chronic liver injury, neurological/psychiatric symptoms, and renal impairment symptoms (Ala et al, 2007;Capone and Azzam, 2018). Additionally, copper chelators, such as penicillamine (PCA), zinc salts, or combinations of these agents, are commonly administered to patients with WD to remove excess copper from the organs (Aggarwal and Bhatt, 2014). However, PCA may induce serious adverse reactions in patients with WD and even worsen their neurological symptoms (Walshe and Yealland, 1993).…”

Section: Introductionmentioning

confidence: 99%

Application of 9.4T MRI in Wilson Disease Model TX Mice With Quantitative Susceptibility Mapping to Assess Copper Distribution

Han

Dong

et al. 2020

Front. Behav. Neurosci.

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In the current study, we used 9.4-tesla magnetic resonance imaging (9.4T MRI) and inductively coupled plasma mass spectrometry (ICP-MS) to investigate the distribution of copper in the brain samples of a murine model of Wilson's disease (WD) following penicillamine (PCA) treatment. We also evaluated if the distribution of copper in the brain samples of mice was correlated with behavioral symptoms. Results from the behavioral experiments showed that 7 days of PCA treatment decreased the total distance traveled in the open field and the number of rearing and climbing instances among the toxic milk (TX) mice as compared with model group. We also observed that the open arm ratio in the elevated plus-maze (EPM) was reduced, escape latency in the Barnes maze test was increased, and avoidance in the open field was enhanced in TX mice following 14 days of PCA treatment as compared with those in untreated TX mice. We found that PCA treatment for 21-28 days improved the cognitive abilities, exploratory behavior, and movement behavior of TX mice. The PCA-treated mice also exhibited varying degrees of magnetic susceptibilities in the cortex, corpus striatum, hippocampus, and amygdaloid nucleus across the treatment period. Low copper concentrations were found in all of the analyzed brain regions of PCA-treated mice after 21-28 days as compared with the model group (P < 0.05). However, copper concentrations were increased in the primary motor cortex and cerebellum at 7 days post-PCA treatment as compared with those in the model group (P < 0.05). After 14 days of PCA treatment, the copper concentrations in the sensorimotor cortex, corpus striatum, hippocampus, and amygdaloid nucleus were higher than those detected without treatment. The results from a Pearson's correlation analysis revealed that there was a significant (P < 0.05) correlation between copper concentrations and magnetic susceptibility in all of the brain regions that were analyzed. Therefore, our results indicate that copper concentration and magnetic susceptibility are associated with alterations in mood-related behavior, recognition memory, and movement behaviors in TX mice that are treated with PCA. The redistribution of copper in the TX mouse brain during PCA treatment may aggravate changes in behavioral performance.

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The Pragmatic Treatment of Wilson's Disease

Cited by 31 publications

References 64 publications

Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

Genetic Dystonia‐ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options

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

Application of 9.4T MRI in Wilson Disease Model TX Mice With Quantitative Susceptibility Mapping to Assess Copper Distribution

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