Advanced electroencephalographic system-based neurophysiological methods to elucidate a mechanism of cognitive dysfunction associated with hepatolenticular degeneration
Authors:   Far Eastern Federal University, Vladivostok, Russian Federation, Ovchinnikova E.V. ,   V.M. Bekhterev National Research Medical Center for Psychiatry and Neurology, St. Petersburg, Russian Federation,   Primorye Territory Clinical Hospital No. 1, Vladivostok, Russian Federation, Schneider N.A. ,   V.M. Bekhterev National Research Medical Center for Psychiatry and Neurology, St. Petersburg, Russian Federation,   Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Krasnoyarsk, Russian Federation, Ovchinnikova A.A. ,   Far Eastern Federal University, Vladivostok, Russian Federation, Nasyrova R.F. ,   V.M. Bekhterev National Research Medical Center for Psychiatry and Neurology, St. Petersburg, Russian Federation, Gulyaev S.A. ,   National Research Nuclear University MEPhI, Moscow, Russian Federation
Published: November 2024

Background: the information revolution induced the growth of neurodegenerative diseases and neurotic conditions associated with cognitive
deficits. The studies were focused on genetic cerebral abnormalities. Hepatolenticular degeneration (HLD) or Wilson's disease whose
pathogenesis is based on copper metabolism disorder caused by ATP7B gene mutations, is one of these conditions. Decreased excretion of
copper leads to the metal accumulation in organs and the brain associated with various clinical manifestations. Motor defects of extrapyramidal
origin and mental disorders are a core of HLD's neurological manifestations. Early manifestations of HLD-associated cognitive dysfunctions may
lead to significantly limited information uptake and processing, in turn, reducing the quality of life of patients. Elucidation of the mechanisms
of cognitive dysfunctions associated with the abnormality is of particular interest both for HLD diagnosis and development of advanced
rehabilitation systems for patients with cognitive deficits.
Aim: to study the mechanisms of cognitive dysfunction development by advanced electroencephalographic (EEG) system-based
neurophysiological methods in patients with a genetically confirmed diagnosis of HLD.
Patients and Methods: study object — 24 European subjects with an established neurological stage of genetically confirmed HLD. 24 healthy
subjects of the same age and gender were enrolled in a control group. A neuropsychological examination was performed by MOCA and HADS.
A neurophysiological EEG was carried out with a 52-channel computer-based bio-amplifier (sLORETA v20210701 software package).
Results: it was found that cognitive deficits are based on disorders of program development and activity planning associated with impaired
mental alertness, as well as high levels of anxiety and depression whose severity does not depend on a type of the ATP7B gene mutation.
Functional changes demonstrate an impact on cortical areas responsible for visual analysis and face identification. The indicators of 8 classes
of EEG microstates show similarity in distribution profiles of bioelectric activity for all the ATP7B gene mutation types.
Conclusion: the findings indicate an impact on cortical structures of impulses arising from sources in damaged basal ganglia.
KEYWORDS: hepatolenticular degeneration, Wilson's disease, electroencephalography, neurophysiology, cognitive dysfunction.
FOR CITATION: Ovchinnikova E.V., Schneider N.A., Ovchinnikova A.A., Nasyrova R.F., Gulyaev S.A. Advanced electroencephalographic
system-based neurophysiological methods to elucidate a mechanism of cognitive dysfunction associated with hepatolenticular degeneration.
Russian Medical Inquiry. 2024;8(10):547–553 (in Russ.). DOI: 10.32364/2587-6821-2024-8-10-1