The impact of vanishing white matter on unaffected family members

Abstract Background Vanishing White matter (VWM) is one of the more prevalent leukodystrophies, caused by biallelic pathogenic variants in any of the EIF2B1–5 genes. It is characterized by chronic progressive neurological deterioration and additional stress-provoked episodes of rapid decline, leadin...

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Bibliographic Details
Published in:Orphanet Journal of Rare Diseases
Main Authors: Romy J. van Voorst, Daphne H. Schoenmakers, Irene van Beelen, Francesco Gavazzi, Alexandra Chapleau, Adeline Vanderver, Geneviève Bernard, Ingeborg Krägeloh-Mann, Marjo S. van der Knaap
Format: Article
Language:English
Published: BMC 2025-08-01
Subjects:
Leukodystrophy
Vanishing white matter
VWM
Ultra-rare diseases
Impact of disease
Quality of life
Online Access:https://doi.org/10.1186/s13023-025-03987-8

Internet

https://doi.org/10.1186/s13023-025-03987-8

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