Vanishing white matter disease (VWM) is one of the most prevalent inherited childhood
leucoencephalopathies. The classical phenotype is characterised by early childhood onset of …

Leukodystrophies are genetically determined disorders characterized by the selective
involvement of the central nervous system white matter. Onset may be at any age, from prenatal …

… Van der Knaap, MS et al. Mutations of each of the five subunits of translation initiation factor
eIF2B … Scheper, GC, Proud, CG & Van der Knaap, MS Defective translation initiation causes …

Results. Clinical profiles. The clinical data are summarized in table 1. A full description of two
representative patients is presented below. Patient 1 is a female, born in March 1987, first …

Our thanks go to our colleagues at the VU Univer-Preface to the Third Edition sity Medical
Center and to those in other hospitals Reading through the prefaces of the two previous edi-…

An identical syndrome of cerebral leukoencephalopathy and megalencephaly with infantile
onset was discovered in 8 children, including 2 siblings. Neurological findings were initially …

After birth the human brain is subject to major maturational changes, which are associated
with changes in the biochemical composition of the brain and brain metabolism. Magnetic …

Objective: The objective of this study is to describe milder and later onset variants of a recently
described leukoencephalopathy with vanishing white matter. Background: The diagnostic …

… van der Knaap, … van der Knaap, … 3 Van der Knaap MS, Valk J, de Neeling N, Nauta JJP.
Pattern recognition in magnetic resonance imaging of white matter disorders in children and …

Mutations in each of the five subunits of translation initiation factor eIF2B can cause
leukoencephalopathy with vanishing white matter - van der Knaap - 2002 - Annals of Neurology - …