atp7b, clinical manifestations, copper, diagnostics, gene therapy, neurological type, treatment, wilson disease
Wilson disease (WD) is a complex metabolic disorder caused by disruptions to copper regulation within the body, leading to an unregulated accumulation of copper within various tissues. A less understood organ affected by the collection of copper is the brain, which further leads to the generation of oxygen-free radicals and resultant demyelination. Healthcare providers must keep the neurological form of WD in their list of differentials when patients present with diverse neurological manifestations. The initial step to diagnosis will be to distinguish the characteristic disease presentation with a thorough history and physical and neurological examination. 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. Once a WD diagnosis is established, the healthcare provider should treat the underlying biological process of WD symptomatically. This review article discusses the epidemiology and pathogenesis of the neurological form of WD, its clinical and behavioral implications, diagnostic features, and treatment modalities (current and emerging therapies), further aiding healthcare professionals in early diagnosis and management strategies.
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Kipker, Nathaniel; Alessi, Kaitlyn; Bojkovic, Marko; Padda, Inderbir; and Parmar, Mayur S., "Neurological-Type Wilson Disease: Epidemiology, Clinical Manifestations, Diagnosis, and Management" (2023). HPD Articles. 2.
© Copyright 2023 Kipker et al.