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Peroxisomal metabolic disorders

Leukodystrophies

The Department of Pediatric Neurology is a subdivision of the Department of Neurology and the Department of Pediatrics. The research program of the department is focused on clinical and translational research concerning leukodystrophies and neonatal neurology. These two main themes are imbedded in the nine translational research programs of Amsterdam Neuroscience, the research institute of neuroscience investigators in the Amsterdam area. All staff members of the Department of Pediatric Neurology are involved in research and collaborate within Neuroscience Amsterdam, with other academic and non-academic hospitals, and with international research groups.

Leukodystrophies

As expertise center for leukodystrophies in The Netherlands, the department has a long tradition in clinical characterization of large cohorts of leukodystrophy patients, studies with advanced MRI techniques and gene finding studies. There is close collaboration with laboratory scientists. Cell and mouse models are used to study pathophysiology of leukodystrophies. Several clinical trials have been performed the past decade and it is our ambition to be a center for large multicenter international trials. There is specific emphasis on:

1. Vanishing white matter and metachromatic leukodystrophy
2. Hypomyelinating disorders like 4H syndrome and Pelizaeus Merzbacher disease
3. Peroxisomal disorders, specifically X-linked adrenoleukodystrophy and Zellweger spectrum disorders
4. Defects of white matter ion and water homeostasis