Clinical and genetic characteristics of hepatolenticular degeneration in Primorsky Region

Background. Hepatolenticular degeneration (HLD) is a degenerative disease caused by variable causal mutations in the ATP7B gene. It is difficult to overestimate the importance of developing rapid and accurate approaches to diagnosing this disease at early stages. Studying the dependence of clinical manifestations of HLD on the type of mutations in the ATP7B gene allows us to select diagnostic criteria for the pathology.

Objective: to study manifestations of hepatolenticular degeneration (HLD) in 100 residents of Primorsky Region with genetically confirmed neurological forms of the disease.

Methods. Molecular genetic study conducted using Sanger sequencing; neuropsychological – using the MOCA, HADS scales.

Results. It was found that in the spectrum of mutations of the ATR7B gene, the emerging positions include two groups of mutations, one of which is typical for HLD patients in the western regions of our country, the other – for HLD representatives of the Asia-Pacific region. The maximum (80%) occurs with four mutations: p.His1069Gln, Glu1064Lys, c.2304insC and Gly710Ser. The main clinical symptoms of the diseases are motor defects of extrapyramidal origin and mental changes that form a cognitive deficit.

Conclusions. Statistical consistent signals in the manifestations of HLD in patients with different character changes. The peculiarity of HLD is the dynamics of its diseases, indicating the transformation of neurotic diseases into neuroautonomic imbalance. Its detection during genetic detection of one of the four main mutations in the homozygous state allows to correct the early diagnostics of HLD.

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