Clinical and genetic characteristics of leukodystrophies in Yakutia

The aim of the study was to investigate the clinical and genetic features of diseases in patients with different types of leukodystrophies in Yakutia. The material for the study was the data from the Registry of Hereditary and Congenital Pathology of the Medical and Genetic Center of the Republican Hospital № 1-National Center of Medicine named after M.E. Nikolaev» and the Research Laboratory «Molecular Medicine and Human Genetics» of the Medical Institute of the NEFU. A total of 4 types of leukodystrophies were registered for the period from 2001 to 2024: hypomyelinating leukodystrophy type 7 with / without oligodontia and with / without gonadotropic hypogonadism – 1, adrenoleukodystrophy – 2, metachromatic leukodystrophy – 1, leukodystrophy with acquired microcephaly with / without dystonia – 5 cases from 4 families. All diseases, except leukodystrophy with acquired microcephaly with/without dystonia, manifest in childhood, and are characterized by a progressive course with various neurological manifestations. Further population and genetic-demographic studies are needed to develop disease prevention measures in the region.

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