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Article

Vanishing white matter disease associated with progressive macrocephaly.

Neuropediatrics - 1 Feb 2008

Pineda M, R-Palmero A, Baquero M, O'Callaghan M, Aracil A, van der Knaap M, Scheper G C

Abstract excerpt

Vanishing white matter disease (VWM) is one of the most frequent inherited childhood leukoencephalopathies. Five genes have been implicated in this disease ( EIF2B1-5), which encode the five subunits of translation initiation factor eIF2B. The disease has an autosomal recessive mode of inheritance. The age of onset and clinical severity vary widely. The diagnosis is based on magnetic resonance imaging (MRI)...

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Identifiers

PMID: 18504679
DOI: 10.1055/s-2008-1076738

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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