Wilson's disease: A master of disguise

Parkinsonism & Related Disorders
Peter Hedera

Abstract

Wilson's disease (WD), in contrast to many neurogenetic metabolic diseases, can be very effectively treated in acute and chronic stages of the disease. However, early recognition is paramount because delays in treatments have much higher risk of unfavorable clinical outcomes. Identification of WD remains challenging because it is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Initial neurologic problems can be seen in approximately 40%-50% of patients and the rest has either hepatic or primarily psychiatric manifestations. Neurologic and neuropsychiatric problems in WD are quite nonspecific and we discuss the most common clinical problems associated with early and late stages of the disease. Many patients with neurologic symptoms do not have any obvious hepatic symptoms. Most common neurologic abnormalities include dysarthria, dystonia, tremor and Parkinsonism. In spite of its phenotypic heterogeneity, laboratory abnormalities, reflecting abnormal copper homeostasis, are very specific and the diagnosis of WD remains laboratory based. We review most important challenges and pitfalls in laboratory evaluation of WD, including emerging role of genetic testing. Pharmacologic treatments need...Continue Reading

Citations

Jul 18, 2019·Expert Review of Neurotherapeutics·Sean CleymaetJustin Faden
May 14, 2020·Neurology·Oliver BandmannPeter Hedera
Jul 6, 2019·Parkinsonism & Related Disorders·Nicki Niemann, Joseph Jankovic
Jan 25, 2021·Experimental Eye Research·Ruchi ShahAlexander V Ljubimov
Aug 18, 2021·Movement Disorders Clinical Practice·Eoin MulroyKailash P Bhatia
Dec 25, 2021·Journal of Clinical Laboratory Analysis·Hafiz Muhammad SalmanIvan Cherrez-Ojeda

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