Publications by authors named "M S van Der Knaap"
Article Synopsis
- Vanishing white matter (VWM) is a genetic disorder caused by mutations in the eIF2B genes, leading to variable onset and severity from prenatal to elderly stages of life.
- The disease primarily affects the brain's white matter, resulting in chronic neurological decline and acute episodes triggered by stressors like infections or minor injuries.
- Research indicates that eIF2B plays a crucial role in the stress response of astrocytes, suggesting that targeting eIF2B pathways may lead to potential treatments for VWM.
Magnetic resonance imaging (MRI) pattern recognition is a powerful tool for quick diagnosis of genetic and acquired white matter disorders. In many cases, distribution and character of white matter abnormalities directly point to a specific diagnosis and guide confirmatory testing. Knowledge of normal brain development is essential to interpret white matter changes in young children.
View Article and Find Full Text PDFAmino-acyl tRNA synthetases (ARSs) are enzymes that catalyze the amino-acylation reaction of a specific amino acid and its cognate tRNA and are divided into type 1 (cytosolic) and type 2 (mitochondrial). In this chapter leukodystrophies caused by tRNA synthetase deficiencies are reviewed.
View Article and Find Full Text PDFObjectives: The leukodystrophy "vanishing white matter" (VWM) and "metachromatic leukodystrophy" (MLD) affect the brain's white matter, but have very different underlying pathology. We aim to determine whether quantitative MRI reflects known neuropathological differences and correlates with clinical scores in these leukodystrophies.
Methods: VWM and MLD patients and controls were prospectively included between 2020 and 2023.
Article Synopsis
- Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare genetic disorder that causes the buildup of toxic bile acids and has been minimally studied, with fewer than 20 documented cases.
- A recent study involving 12 patients revealed that symptoms like retinitis pigmentosa and neurological issues typically develop in adults after a significant delay in diagnosis, with a median age of 56 years at the time of identification.
- The condition presents primarily as a slowly progressive neurological disease, and MRI scans can help identify characteristic brain abnormalities, highlighting the need for better recognition and awareness of AMACR deficiency.