Poll-The B.T.: Genetic and congenital disorders of the nervous system and neurometabolic diseases

The AMC Department of Pediatrics / Pediatric Neurology and the collaborating laboratories (Genetic Metabolic Diseases, Neurogenetics) have specialized expertise in the care, diagnosis and research of patients with peroxisomal disorders and patients with congenital abnormalities of the cerebral posterior fossa structures [ponto cerebellar hypoplasia (PCH)], an early onset neurodegenerative disease.
As a result of the longstanding research lines, we see virtually all patients diagnosed in the Netherlands and we have DNA and cell lines from these patients and from patients outside the Netherlands. In addition, we have close links with the patient organizations.



Peroxisomal research line: Much progress has been made with respect to the resolution of the underlying defect in patients affected by a peroxisomal disorder. However, currently, the patho-physiological mechanisms are still poorly understood, and therefore therapeutic strategies not available. We will continue to search ways to translate discoveries made in research laboratories into a clinically relevant format in a way to ameliorate the recognition, understanding, and possible therapeutic strategies for patients.



Ponto cerebellar hypoplasia research line: After the identification of the genes (TSEN genes) as cause for PCH (2008) phenotype-genotype correlations studies have been performed. The research will now be directed to resolve the pathogenetic mechanisms which lead to neurodegeneration and to find other genes.