Brain Imaging and Genetic Risk in the Pediatric Population, Part 1. Inherited Metabolic Diseases

Maria Gabriela Longo, Filippo Vairo, Carolina Fischinger Souza, Roberto Giugliani, Leonardo Modesti Vedolin

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

In this article, the genotype-MR phenotype correlation of the most common or clinically important inherited metabolic diseases (IMD) in the pediatric population is reviewed. A nonsystematic search of the PubMed/Medline database of relevant studies about "genotype-phenotype correlation" in IMD was performed. Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.

Original languageEnglish (US)
Pages (from-to)31-51
Number of pages21
JournalNeuroimaging Clinics of North America
Volume25
Issue number1
DOIs
StatePublished - Jan 1 2015

Keywords

  • Brain imaging
  • Genetics
  • Inborn errors of metabolism
  • Magnetic resonance
  • Metabolic disorder
  • MRI

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

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