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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 241-257 |
| Number of pages | 17 |
| Journal | Topics in magnetic resonance imaging : TMRI |
| Volume | 27 |
| Issue number | 4 |
| DOIs | |
| State | Published - Aug 1 2018 |
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ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
Cite this
Clinical and Neuroimaging Spectrum of Peroxisomal Disorders. / Tan, Ai Peng; Gonçalves, Fabrício Guimarães; Almehdar, Abeer; Soares, Bruno.
In: Topics in magnetic resonance imaging : TMRI, Vol. 27, No. 4, 01.08.2018, p. 241-257.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Clinical and Neuroimaging Spectrum of Peroxisomal Disorders
AU - Tan, Ai Peng
AU - Gonçalves, Fabrício Guimarães
AU - Almehdar, Abeer
AU - Soares, Bruno
PY - 2018/8/1
Y1 - 2018/8/1
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.
UR - http://www.scopus.com/inward/record.url?scp=85056536794&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85056536794&partnerID=8YFLogxK
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 -