Objective: Wilson’s disease (WD) is an autosomal-recessive copper metabolism disease caused by ATP7B mutations.

Background: Here we described an interesting case of WD.

Method: A 63-year-old female initially had right-hand tremors, bradykinesia, and Parkinson’s disease diagnosis (PD). After taking 125 mg L-dopa three times daily for six months, her motor dysfunction worsened. Due to severe parkinsonism and difficulty walking, she was admitted to our unit. Neurological examination revealed facial expression laked, slurred speech, slow movement, head tremors, severe resting, action and wing-beating tremors of limbs, and rigidity in lower limbs. She performed poorly in the finger-tapping, hand-movement, leg-agility, and toe-tapping tests. Serum ceruloplasmin was lower level at 0.093g/l. Brain MRI revealed slight changes in basal ganglia (Figure 1 A, B, and C). Kayser-Fleischer rings were positive (Figure 1 D). A heterozygous mutation is identified in the ATP7B gene at positions c.2975C>T/p.P992L and c.2804C>T/p.P935M. (Figure 1 E and F).

Results: An i.v. to oral step-down therapy for two years minimized the severe parkinsonism. Older adults also develop WD^{1, 2}. The basal ganglia are the most frequently and severely affected brain region in WD, with putamen damage linked mainly to parkinsonism¹.

Conclusion: According to our case, late-onset severe parkinsonism without typical basal ganglia involvement, WD is also possible, even though it is highly similar to PD at an earlier stage. Cases like this are few and far between, allowing us to broaden our view and change our perspective on WD in the elderly.

References: [1]. Członkowska A, Litwin T, Dusek P, et al. Wilson disease. Nat Rev Dis Primers 2018;4(1):21.
[2]. Shribman S, Marjot T, Sharif A, et al. Investigation and management of Wilson’s disease: a practical guide from the British Association for the Study of the Liver. Lancet Gastroenterol Hepatol 2022;7(6):560-575.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/severe-parkinsonism-late-onset-in-wilsons-disease-without-typical-basal-ganglia-involvement/