Jaap Valk

TL;DR: A novel inherited neurometabolic disease, probably autosomal recessive, with distinct clinical, biochemical, and neuroimaging features is described, and the elevated CSF/plasma ratio suggests that it is in part generated within the central nervous system.

TL;DR: This autosomal recessively inherited disease is expressed as progressive ataxia, mental deficiency with subcortical leukoencephalopathy and cerebellar atrophy on magnetic resonance imaging, and further investigations are required to clarify the possible relevance to the metabolic defect inl-2-hydroxyglutaric acidaemia.

TL;DR: The results point to the fact that in the pediatric age group, associated spinal defects often remain asymptomatic.

TL;DR: This is probably the first report of "porencephaly" which shows a pattern of autosomal dominant inheritance, and preliminary evidence of a primary disease of myelination, in the absence of histopathological confirmation.

TL;DR: Children with acquired CC anomalies have signs of supposed Interhemispheric Disconnection, which is partly responsible for their clinical syndrome of mental and motor retardation, and the likelihood of finding a CC anomaly in a child seems to be enhanced by the predictive use of neuropsychological tasks indicative for ID.