GLUT1 deficiency syndrome 2013: Current state of the art

Valentina De Giorgis, Pierangelo Veggiotti

Research output: Contribution to journalArticlepeer-review

Abstract

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport into the brain. The "classic" GLUT1DS patient presents with infantile seizures (resistant to traditional seizure medications), developmental delay, acquired microcephaly, hypotonia, spasticity, and a complex movement disorder consisting of ataxia and dystonia. However, over the years, other clinical manifestations have been described, such as paroxysmal exertion-induced dystonia with or without seizures, choreoathetosis, alternating hemiplegia, and other paroxysmal events, such as intermittent ataxia, dystonia, and migraine. At the current state of the art in understanding of GLUT1DS, classifying the disease phenotype as "classical" or "non-classical" seems to be of limited clinical utility. It seems more appropriate to think in terms of a broad clinical spectrum in which we can observe intellectual impairment, acquired microcephaly, epilepsy, and movement disorders characterized by different clinical manifestations and degrees of severity. Lumbar puncture, a simple investigation, should be considered the first diagnostic step that, moreover, is feasible worldwide. Thereafter, mutational analysis of the solute carrier family 2 (facilitated glucose transporter) member 1 (SLC2A1) gene should be performed in patients with highly suggestive clinical findings and low cerebrospinal fluid glucose (

Original languageEnglish
Pages (from-to)803-811
Number of pages9
JournalSeizure
Volume22
Issue number10
DOIs
Publication statusPublished - Dec 2013

Keywords

  • Epilepsy
  • GLUT1DS
  • Ketogenic diet
  • Lumbar puncture
  • Movement disorder
  • SLC2A1 gene

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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