Peroxisomal Disorders: A Review on Cerebellar Pathologies.
Brain Pathol
; 25(6): 663-78, 2015 Nov.
Article
in En
| MEDLINE
| ID: mdl-26201894
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, ß-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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Peroxisomal Disorders
Limits:
Animals
/
Humans
Language:
En
Journal:
Brain Pathol
Journal subject:
CEREBRO
/
PATOLOGIA
Year:
2015
Document type:
Article
Affiliation country: