Adult-onset leukoencephalopathy with vanishing white matter

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Abstract

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 EIF2B translation initiation factor. There are infantile, children’s (the most frequent one), and adult-onset forms. Adult-onset LE-VWM 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 LE-VWM.

About the authors

Galina E. Rudenskaya

Research Centre for Medical Genetics

Email: rudenskaya@med-gen.ru
Россия, Moscow

E. Yu. Zakharova

Research Centre for Medical Genetics

Author for correspondence.
Email: rudenskaya@med-gen.ru
Россия, Moscow

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Copyright (c) 2016 Rudenskaya G.E., Zakharova E.Y.

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