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Title: Peroxisomal Disorders: A Review on Cerebellar Pathologies
Authors: De Munter, Stephanie
Verheijden, Simon
RĂ©gal, Luc
Baes, Myriam # ×
Issue Date: Nov-2015
Publisher: International Society of Neuropathology
Series Title: Brain Pathology vol:25 issue:6 pages:663-78
Article number: 10.1111/bpa.12290
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.
URI: 
ISSN: 1015-6305
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Cell Metabolism
Translational Research in GastroIntestinal Disorders
Laboratory for Biochemical Neuroendocrinology
× corresponding author
# (joint) last author

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