Category: Rare Genetic and Metabolic Diseases
Objective: To show an unusual presentation of Wilson´s disease.
Background: Parkinsonism is evident in approximately 40% of patients with Wilson’s disease and responds favourably to metabolism control. Single photon emission computed tomography (SPECT) studies suggest both presynaptic and postsynaptic nigrostriatal dopaminergic damage, although not universally. Anecdotal case reports communicated a favourable response to levodopa. Transcranial sonography (TCS) findings include mostly lenticular nucleus hyperechogenicity, while substantia nigra hyperechogenicity (SN+) is rare.
Method: Case report.
Results: A 35 year-old woman was referred to our clinic 15 years after Wilson’s disease diagnosis. Clinical onset was at the age of 20 with cognitive impairment, upper limb tremor and dystonia, all successfully controlled with D-penicillamine, zinc and trihexyphenidyl. Ten years after she presented bilateral feet dystonia and dysartrhia, partially responsive to trientine and botulinum toxin injections. Treatment was suspended for three months without clinical changes, and zinc was restarted due to liver enzymes increase. Four years later, she complained of slowness and gait problems leading to several falls, and bradykinesia and freezing of gait were evident on examination. A SPECT-DaTscan showed presynaptic damage and TCS hyperechogenic substantia nigra without abnormalities in lenticular nucleus. Levodopa 300 mg daily improved symptoms, and a marked clinical worsening was noted after discontinuation.
Conclusion: We present a case of Wilson’ disease with late onset parkinsonism unrelated to copper balance, with positive DaTscan and TCS similar to sporadic PD, as well as favourable response to levodopa. While a very unusual presentation of Wilson’s disease is the most likely diagnosis, the possibility of an independent disorder such as a juvenile Parkinson’s disease needs to be considered.
To cite this abstract in AMA style:
B. Baena Álvarez, R. Sainz Amo, F. Rodríguez Jorge, J. Masjuán Vallejo, J.C Martínez Castillo, A. Celdrán, J. Vaamonde Gamo, J.P Cabello, D. Burgos Santamaría, G. Sánchez Díez, I. Parées Moreno, G. Garcia-Ribas, A. Alonso Cánovas. Wilson and Parkinson’s Disease: Beyond Copper Metabolism [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/wilson-and-parkinsons-disease-beyond-copper-metabolism/. Accessed June 14, 2025.« Back to MDS Virtual Congress 2020
MDS Abstracts - https://www.mdsabstracts.org/abstract/wilson-and-parkinsons-disease-beyond-copper-metabolism/