Adult-Onset Leukoencephalopathy with Vanishing White Matter
- Autores: Rudenskaya G.1, Zakharova E.1
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Afiliações:
- Research Centre for Medical Genetics
- Edição: Volume 43, Nº 8 (2017)
- Páginas: 898-903
- Seção: Article
- URL: https://journals.rcsi.science/0362-1197/article/view/177464
- DOI: https://doi.org/10.1134/S0362119717080084
- ID: 177464
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Resumo
Leukoencephalopathy with vanishing white matter (LEVWM) is one of the most common hereditary leukoencephalopathies with characteristic MRI picture of diffuse white matter lesions with cystic degeneration. The disease is associated with EIF2B1-5 genes, encoding five subunits of translation initiation factor EIF2B. There are infantile, Childhood (the most frequent one), and adult-onset forms. Adult-onset LEVWM accounts for 15–20% of all cases and is characterized by significant clinical variability. In addition to neurological and cognitive disorders, this disease is characterized by ovarian failure. The review presents the clinical and molecular genetic aspects of adult-onset LEVWM.
Sobre autores
G. Rudenskaya
Research Centre for Medical Genetics
Autor responsável pela correspondência
Email: rudenskaya@med-gen.ru
Rússia, Moscow
E. Zakharova
Research Centre for Medical Genetics
Email: rudenskaya@med-gen.ru
Rússia, Moscow