Hepatolenticular Degeneration: Intrafamily Heterogeneity
https://doi.org/10.52667/2712-9179-2025-5-4-75-90
Abstract
The article studies the clinical manifestations of hepatolenticular degeneration (HLD) in first-degree relatives of patients with genetically confirmed neurological forms of the pathology (a total of 37 representatives from 16 families). Molecular genetic testing was performed using Sanger sequencing. It was found that first-degree relatives in each of the examined families differ only in the severity and timing of the pathology with the same type of mutations in the ATP7B gene, and a clear similarity in the manifestations of the neurological defect. Early manifestation of the neurological defect was confirmed. Its occurrence was noted against the background of signs indicating changes in other organs and systems that mask brain tissue damage and extrapyramidal motor disorders. It has been shown that examination of first-line relatives of patients with neurological forms of HLD allows diagnosing the pathology at the preclinical stage (in 58.8%) or at its initial manifestations (in 35.3%), reducing the delay in diagnosis by 10 years or more. This guarantees early treatment and social adaptation of patients. The conducted studies allow us to recommend practical healthcare to include examination of first-line relatives in the standard of care for patients with HLD for early diagnosis and prevention of unfavorable outcomes.
About the Author
Elena V. Ovchinnikova
Far Eastern Federal University; Primorsky Regional Clinical Hospital No. 1
Russian Federation
Russian Federation
690950 Vladivostok; 690091 Vladivostok
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Review
For citations:
Ovchinnikova E.V. Hepatolenticular Degeneration: Intrafamily Heterogeneity. Personalized Psychiatry and Neurology. 2025;5(4):77-92. https://doi.org/10.52667/2712-9179-2025-5-4-75-90
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