r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2026-31-2-43-50r-n-j-827Research ArticleОБЗОРЫREVIEWSБолезнь Вильсона–Коновалова с поздним началомLate-onset Wilson’s diseasehttps://orcid.org/0000-0003-0728-8708МинаевИ. В.MinaevI. V.

Москва

Moscow

minaev.i.v@neurology.ruhttps://orcid.org/0000-0003-3179-7668НужныйЕ. П.NuzhnyiE. P.

Москва

Moscow

https://orcid.org/0000-0002-7986-1430ПолещукВ. В.PoleshchukV. V.

Москва

Moscow

https://orcid.org/0000-0002-2704-6282ИллариошкинС. Н.IllarioshkinS. N.

Москва

Moscow

Российский центр неврологии и нейронаукРоссияRussian Research Center of Neurology and NeuroscienceRussian Federation20261706202631243–50Copyright © Минаев И.В., Нужный Е.П., Полещук В.В., Иллариошкин С.Н., 20262026Минаев И.В., Нужный Е.П., Полещук В.В., Иллариошкин С.Н.Minaev I.V., Nuzhnyi E.P., Poleshchuk V.V., Illarioshkin S.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/827Введение

Введение. Болезнь Вильсона–Коновалова (БВК) характеризуется широкой фенотипической гетерогенностью и может манифестировать не только в детском и молодом возрасте, но и после 40 лет, что обусловливает сложность своевременной диагностики и ухудшает прогноз заболевания.

Цель исследования

Цель исследования. Анализ клинико-генетических, лабораторных и нейровизуализационных характеристик неврологических форм БВК с поздним началом.

Материал и методы

Материал и методы. Обследованы 98 пациентов с неврологическими формами БВК, наблюдавшиеся с 2016 по 2025 г., у 16 из которых (16,3%) заболевание дебютировало после 40 лет. Проведен ретроспективный анализ клинической картины, показателей медно-лигандного обмена, функций печени, данных МРТ головного мозга в дебюте заболевания, а также результатов ДНК-диагностики. Результаты сопоставлены с группой пациентов с типичным возрастом начала заболевания.

Результаты

Результаты. При позднем дебюте БВК чаще наблюдались дрожательная и дрожательно-ригидная формы с преобладанием тремора и паркинсонизма. Отмечались менее выраженные нарушения медно-лигандного обмена, преимущественно компенсированный цирроз печени и более редкое поражение скорлупы на МРТ головного мозга. По данным молекулярно-генетического исследования известный патологический вариант p.H1069Q гена ATP7B чаще выявлялся в гомозиготном состоянии (68,8%).

Заключение

Заключение. Полученные данные позволяют оптимизировать диагностические алгоритмы, с необходимостью исключения БВК у всех пациентов с дебютом экстрапирамидных синдромов при подозрении на болезнь Паркинсона, эссенциальный тремор, мультисистемную атрофию и другие двигательные расстройства, в том числе после 40 лет.

Background

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

Objective. To analyze the clinical, genetic, laboratory, and neuroimaging features of neurological forms of late-onset WD.

Methods

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

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

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.

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The authors declare that there are no conflicts of interest present.