Publications by authors named "T E M Abbink"
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.
The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilepsy and slow cognitive decline. No treatment is available.
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- Vanishing white matter (VWM) is a severe genetic disorder leading to neurological decline and early death, caused by mutations in eIF2B subunits that regulate the stress response in cells.
- Research indicates that the dysfunction of eIF2B in VWM patients leads to a disrupted integrated stress response, with more severe impairments linked to increased deregulation.
- Lithium, a GSK3β inhibitor thought to restore eIF2B activity, showed mixed results in studies on zebrafish and mutant mice, improving motor function in zebrafish but causing side effects and lacking consistent efficacy in mice, making it unsuitable for further development in treating VWM.
The leukodystrophy vanishing white matter (VWM) is characterized by chronic and episodic acute neurological deterioration. Curative treatment is presently unavailable. Pathogenic variants in the genes encoding eukaryotic initiation factor 2B (eIF2B) cause VWM and deregulate the integrated stress response (ISR).
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