title: Peroxisomal Disorders: A Review on Cerebellar Pathologies.
abstract: Peroxisomes are organelles with diverse metabolic tasks including essential roles in lipid metabolism. They are of utmost importance for the normal functioning of the nervous system as most peroxisomal disorders are accompanied with neurological symptoms. Remarkably, the cerebellum exquisitely depends on intact peroxisomal function both during development and adulthood. In this review, we cover all aspects of cerebellar pathology that were reported in peroxisome biogenesis disorders and in diseases caused by dysfunction of the peroxisomal α-oxidation, β-oxidation or ether lipid synthesis pathways. We also discuss the phenotypes of mouse models in which cerebellar pathologies were recapitulated and search for connections with the metabolic abnormalities. It becomes increasingly clear that besides the most severe forms of peroxisome dysfunction that are associated with developmental cerebellar defects, milder impairments can give rise to ataxia later in life.
authors.affiliation: Department of Pharmaceutical and Pharmacological Sciences, Cell Metabolism, KU Leuven-University of Leuven, B-3000, Leuven, Belgium.
authors.forename: Stephanie
authors.initials: S
authors.lastname: De Munter
authors.affiliation: Department of Clinical and Experimental Medicine, TARGID, KU Leuven-University of Leuven, B-3000, Leuven, Belgium.
authors.forename: Simon
authors.initials: S
authors.lastname: Verheijden
authors.affiliation: Department of Pediatric Neurology and Metabolic Disorders, UZ Brussel-University Hospital Brussels, 1000, Brussels, Belgium.
authors.forename: Luc
authors.initials: L
authors.lastname: Régal
authors.affiliation: Department of Pharmaceutical and Pharmacological Sciences, Cell Metabolism, KU Leuven-University of Leuven, B-3000, Leuven, Belgium.
authors.forename: Myriam
authors.initials: M
authors.lastname: Baes
mesh_terms: D000818:Animals; D002531:Cerebellum / Q000254:growth & development / Q000503:physiopathology; D006801:Humans; D010084:Oxidation-Reduction; D018901:Peroxisomal Disorders / Q000503:physiopathology*; D020675:Peroxisomes / Q000502:physiology
keywords: ataxia; cerebellum; fatty acid; peroxisome; plasmalogen