Vanishing white matter (VWM) disease: clinical features

Genetics

• This is possibly an astrocytopathy
• It is caused by mutations in the EIF2B 1-5 gene
• The genes encode the eukaryotic inhibitory factor EIF2B1-5 subunits
• The transmission is autosomal recessive
• The onset age ranges from antenatal to adulthood
• Adult onset cases are milder

References

1. van der Knaap MS, Barth PG, Gabreëls FJ, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997; 48:845-855.
2. Labauge P, Horzinski L, Ayrignac X, et al. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain 2009; 132:2161-2169.
3. Bugiani M, Vuong C, Breur M, van der Knaap MS. Vanishing white matter: a leukodystrophy due to astrocytic dysfunction. Brain Pathol 2018; 28:408-421.
4. Leferink PS, Breeuwsma N, Bugiani M, van der Knaap MS, Heine VM. Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter. Glia 2018; 66:862-873.
5. Dooves S, Bugiani M, Postma NL, et al. Astrocytes are central in the pathomechanisms of vanishing white matter. J Clin Invest 2016; 126:1512-1524.
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Related checklists

• Vanishing white matter (VWM) disease: management
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