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

… 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 …

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 …

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-…

Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows
overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent …

Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …

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

Porencephaly is a rare neurological disease, typically manifest in infants, which is characterized
by the existence of degenerative cavities in the brain. To investigate the molecular …

… MS and CF were involved in the synthetase assay. JS and RVC contributed to the
measurement of the mitochondrial activities in cultured cells. TIM, SVS, GU, MB, RS, IK-M., JAMS, …

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic
those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations …