Late-onset Wilson’s disease
https://doi.org/10.30629/2658-7947-2026-31-2-43-50
Abstract
Background. Wilson’s disease (WD) is characterized by wide phenotypic heterogeneity and may manifest not only in childhood and young adulthood but also after 40 years of age, which complicates timely diagnosis and worsens prognosis.
Objective. To analyze the clinical, genetic, laboratory, and neuroimaging features of neurological forms of late-onset WD.
Methods. Ninety-eight patients with neurological WD who were followed at a neurological research center from 2016 to 2025 were examined. In 16 patients (16.3%), disease onset occurred after the age of 40. A retrospective analysis of clinical manifestations, copper metabolism parameters, liver function tests, brain MRI findings at disease onset, and DNA diagnostic results was performed. The findings were compared with those in patients with a typical age of onset.
Results. In late-onset WD, tremor and tremor–rigid forms were observed more frequently, with a predominance of tremor and parkinsonian features. Disturbances of copper metabolism were less pronounced. Compensated liver cirrhosis predominated, and putaminal involvement on MRI was less frequent. Molecular genetic analysis revealed that the known pathogenic ATP7B variant p.H1069Q was more frequently detected in the homozygous state (68.8%).
Conclusion. Late-onset WD has a distinct neurological and radiological profile and may closely mimic common adult-onset movement disorders. WD should be routinely considered in the differential diagnosis of extrapyramidal syndromes, even in patients over 40 years of age.
About the Authors
I. V. Minaev
Russian Research Center of Neurology and Neuroscience
Russian Federation
Russian Federation
Moscow
E. P. Nuzhnyi
Russian Research Center of Neurology and Neuroscience
Russian Federation
Russian Federation
Moscow
V. V. Poleshchuk
Russian Research Center of Neurology and Neuroscience
Russian Federation
Russian Federation
Moscow
S. N. Illarioshkin
Russian Research Center of Neurology and Neuroscience
Russian Federation
Russian Federation
Moscow
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Review
For citations:
Minaev I.V., Nuzhnyi E.P., Poleshchuk V.V., Illarioshkin S.N. Late-onset Wilson’s disease. Russian neurological journal. 2026;31(2):43–50. (In Russ.) https://doi.org/10.30629/2658-7947-2026-31-2-43-50
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