Clinical and Neuroimaging Spectrum of Peroxisomal Disorders

Top Magn Reson Imaging. 2018 Aug;27(4):241-257. doi: 10.1097/RMR.0000000000000172.

Abstract

Peroxisomes play vital roles in a broad spectrum of cellular metabolic pathways. Defects in genes encoding peroxisomal proteins can result in a wide array of disorders, depending upon the metabolic pathways affected. These disorders can be broadly classified into 2 main groups; peroxisome biogenesis disorders (PBDs) and single peroxisomal enzyme deficiencies. Peroxisomal enzyme deficiencies are result of dysfunction of a specific metabolic pathway, while PBDs are due to generalized peroxisomal dysfunction. Mutations in PEX1 gene are the most common cause of PBDs, accounting for two-thirds of cases. Peroxisomal fission defects is a recently recognized entity, included under the subgroup of PBDs. The aim of this article is to provide a comprehensive review on the clinical and neuroimaging spectrum of peroxisomal disorders.

Publication types

  • Review

MeSH terms

  • Brain / diagnostic imaging*
  • Brain / pathology
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Neuroimaging / methods*
  • Peroxisomal Disorders / diagnostic imaging*
  • Peroxisomal Disorders / pathology