Adult-onset leukoencephalopathy with vanishing white matter

Abstract

Leukoencephalopathy with vanishing white matter (LEVWM)is one of the most common hereditary leukoencephalopathieswith characteristic MRI picture of diffuse whitematter lesions with cystic degeneration. The disease is associatedwith EIF2B1-5 genes, encoding five subunits of EIF2Btranslation initiation factor. There are infantile, childrens(the most frequent one), and adult-onset forms. Adult-onsetLE-VWM accounts for 1520% of all cases and is characterizedby significant clinical variability. In addition to neurologicaland cognitive disorders, this disease is characterized byovarian failure. The review presents the clinical and moleculargenetic aspects of adult-onset LE-VWM.

Keywords

• vwm
• leukoencephalopathy with vanishing white matter
• adult-onset form, eif2b1—5 gene mutations
• mri
• clinical variability
• ovarian failure