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

Specific types

Antenatal onset features

Neurological features

Psychiatric features

Genitourinary features

Endocrine features

Triggers for deterioration

Differential diagnosis

Poor prognostic factors

Synonym

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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