A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants

A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants

Abstract Background Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, a...

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Bibliographic Details
Main Authors: Bashar Kamal Ali Douden, Yazan Mohammad Abdullah Abufara, Mahmood Fayez Ali Aldrabeeh, Naela Ramadan Mohammad Tell, Ismail Abudaya
Format: Article
Language:English
Published: BMC 2025-01-01
Series:BMC Neurology
Subjects:
Vanishing white matter leukoencephalopathy (VWML)
Vanishing white matter disease (VWMD)
Movement disorder.
Online Access:https://doi.org/10.1186/s12883-024-04018-y

Internet

https://doi.org/10.1186/s12883-024-04018-y

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