TY - JOUR
T1 - Clinical and neuroimaging spectrum of peroxisomal disorders
AU - Tan, Ai Peng
AU - Gonçalves, Fabrício Guimarães
AU - Almehdar, Abeer
AU - Soares, Bruno Passebon
N1 - Publisher Copyright:
Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - Peroxisome biogenesis disorders
KW - Peroxisomes
KW - Rhizomelic chondrodysplasia punctata
KW - Single peroxisomal enzyme deficiencies
KW - Xlinked adrenoleukodystrophy
KW - Zellweger spectrum disorders
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U2 - 10.1097/RMR.0000000000000172
DO - 10.1097/RMR.0000000000000172
M3 - Review article
C2 - 30086110
AN - SCOPUS:85056536794
VL - 27
SP - 241
EP - 257
JO - Topics in Magnetic Resonance Imaging
JF - Topics in Magnetic Resonance Imaging
SN - 0899-3459
IS - 4
ER -