A new review article outlining the epidemiology and pathogenesis of the neurological form of Wilson disease (WD) was published in the journal Cureus.

The article by Nathaniel Kipker and colleagues covers the clinical and behavioral implications of this type of disease as well as the diagnostic features and treatment options.

Read more about the differential diagnosis of WD 

The authors noted that this article can help healthcare providers with the early diagnosis of neurological-type WD and the best strategies for managing and treating it.

The effect of WD on the brain is less well understood, the authors of the article said. “Healthcare providers must keep the neurological form of WD in their list of differentials when patients present with diverse neurological manifestations,” they added.

After giving a comprehensive overview of the epidemiology and the clinical manifestations of the disease including choreoathetosis, dystonia, tremor, Parkinsonism, cerebral ataxia, dysarthria, dysphagia, and psychiatric and behavioral problems, the article dives into the diagnosis of the disease. 

“The initial step to diagnosis will be to distinguish the characteristic disease presentation with a thorough history and physical and neurological examination,” according to the authors. “A high clinical disease suspicion of WD should warrant further investigation by laboratory workup and imaging modalities to support the clinical findings and confirm the diagnosis of WD.”

The authors then cover current and emerging treatments for the disease. Currently available treatment options include zinc, trientine, chelation therapy, dietary modifications, D-penicillamine, tetrathiomolybdate dimercaptosuccinic acid, and liver transplant. New therapies that are emerging include gene therapy, ALXN1840, and cell therapy.

“Further studies and research in WD can help researchers and clinicians better understand the complexities of WD and gain an understanding of new emerging therapeutics,” the researchers concluded. 

WD is a rare genetic disease caused by a mutation in the ATP7B gene, which encodes a protein that is responsible for transporting copper from the liver to other regions in the body. The mutation causes copper to accumulate throughout the body but especially in the eyes, brain and liver, causing damage.


Kipker N, Alessi K, Bojkovic M, et al. Neurological-type Wilson disease: epidemiology, clinical manifestations, diagnosis, and management. Cureus. Published April 26, 2023. doi:10.7759/cureus.38170