Clinical and Neuroimaging Spectrum of Peroxisomal Disorders

Ai Peng Tan, Fabrício Guimarães Gonçalves, Abeer Almehdar, Bruno Soares

Research output: Contribution to journalReview article

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 languageEnglish (US)
Pages (from-to)241-257
Number of pages17
JournalTopics in magnetic resonance imaging : TMRI
Volume27
Issue number4
DOIs
StatePublished - Aug 1 2018

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Peroxisomal Disorders
Neuroimaging
Metabolic Networks and Pathways
Peroxisomes
Enzymes
Genes
Mutation
Peroxisome biogenesis disorders
Proteins

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 journalReview article

Tan, Ai Peng ; Gonçalves, Fabrício Guimarães ; Almehdar, Abeer ; Soares, Bruno. / Clinical and Neuroimaging Spectrum of Peroxisomal Disorders. In: Topics in magnetic resonance imaging : TMRI. 2018 ; Vol. 27, No. 4. pp. 241-257.
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