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

ABSTRACT

Introduction: Wilson’s disease (WD) is a neurodegenerative disorder that presents mainly with liver symptoms, but may be accompanied by various neurological manifestations. WD can be successfully treated with chelators or zinc salts to correct the abnormal copper metabolism, which usually improves both liver function and the neurological deficits; however, improvement in neurological deficits can take years. Patients may initially present with severe neurological deficits that affect activities of daily living. Consequently, therapy to alleviate the neurological symptoms is needed. Treatment choices are often based on experience with other disorders with symptoms clinically similar to WD.

Areas covered: Apart from general recommendations on the anti-copper therapy and liver transplantation in patients with WD, no guidelines for managing the neurological symptoms exist. Based on mainly case reports, this review describes the most frequent neurological symptoms and their possible treatments.

Expert opinion: There is no strong evidence regarding treatment of neurological disturbances in patients with WD. Several case studies indicate that drugs used to treat movement disorders such as tremor, parkinsonism, or dystonia may also alleviate these symptoms in patients with WD. In the case of severe, disabling, neurological symptoms, the treatment options for symptoms should always be discussed with the patient.

KEYWORDS:

• Wilson’s disease
• tremor
• dystonia
• chorea
• symptomatic neurological treatment

Article highlights

• Wilson’s Disease (WD) is a rare neurodegenerative disorder that, in most cases, can be successfully treated with pharmacologic agents that lead to a negative copper balance;

• Some WD patients show severe neurologic symptoms at diagnosis and in this patient group, some neurologic deficits may persist despite adequate anti-copper treatment, and further neurologic deterioration may be observed after treatment initiation;

• Currently, there is no evidence supporting the use of other symptomatic neurologic treatment in WD patients;

• However, in WD cases that show persistent disabling neurologic symptoms despite long-term anti-copper treatment and in cases with severe initial neurologic presentation, additional symptomatic treatment should be considered—including pharmacotherapy, neurosurgery, physiotherapy, and speech therapy;

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Declaration of interests

P Dusek is supported by the Ministry of Health of the Czech Republic, grant number 15-25602A and the Charles University in Prague, PRVOUK P26/LF1/4. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.