Hereditary diffuse leukoencephalopathy with axonal spheroids: description of a clinical case
Year: 2025
Type: article
Study design: Case Report
Abstract: Background. Hereditary diffuse leukoencephalopathy with axonal spheroids is a genetically determined mutation of the CSF1R gene with changes in the white matter of the brain. The main tests in making a diagnosis are magnetic resonance imaging (MRI) of the brain and genetic testing. Сlinical Сase Description. We have described a clinical case of hereditary diffuse leukoencephalopathy with axonal spheroids in a woman, confirmed by genetic studies. The clinical picture was manifested by cognitive, affective, motor disorders, and convulsive syndrome. Conclusion. Hereditary leukoencephalopathies are relatively rare diseases, understanding their pathogenesis and clinical picture has significantly expanded knowledge about neurodegenerative diseases.
Source: Medical alphabet
Authors: E. S. Ostapchuk, O. P. Glinin, M. V. Malahov
Institution: Tyumen State Medical University
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4408970122