Leigh syndrome – review

Abstract

Leigh syndrome is a rare, progressive mitochondrial disorder with onset typically in early infancy, characterized by severe neurodegeneration and high mortality. Its etiology is genetically heterogeneous and includes pathogenic variants in both mitochondrial and nuclear DNA, leading to impaired respiratory chain function and oxidative phosphorylation. The clinical phenotype encompasses a broad spectrum of neurological and systemic manifestations, with characteristic bilateral lesions of the basal ganglia and brainstem on magnetic resonance imaging serving as a key diagnostic feature. This review summarizes current knowledge on the pathogenesis, genotype–phenotype correlations, clinical features, and diagnostic approach in Leigh syndrome, with particular emphasis on the role of molecular genetic testing. The challenges and possibilities of genetic counseling and prenatal diagnosis, as well as current therapeutic strategies, are also discussed.

Key words: mitochondrial disease, Leigh syndrome, heteroplasmy, neurodegeneration.

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Corresponding author

D. Atova

Department of Clinical genetics, SBALDB University Pediatric Hospital, Medical University of Sofia

Sofia, Bulgaria

Ivan Geshov blvd. 11

e-mail: dinaatova@yahoo.com,