Journal of Inherited Metabolic Disease

, Volume 34, Issue 2, pp 483–488

Dystonic tremor caused by mutation of the glucose transporter gene GLUT1

Authors

    • AP-HP, Service de NeuropédiatrieHôpital Trousseau
    • AP-HP, Service de NeurologieHôpital St Antoine
    • Service de NeurologieHôpital Saint-Antoine
  • Emmanuelle Apartis
    • AP-HP, Service de PhysiologieHôpital St Antoine
    • Université Pierre et Marie Curie-Paris-6, CRICM /Inserm UMR_S975 /CNRS UMR 7225
  • Valérie Mesnage
    • AP-HP, Service de NeurologieHôpital St Antoine
  • Diane Doummar
    • AP-HP, Service de NeuropédiatrieHôpital Trousseau
  • Jean-Marc Trocello
    • AP-HP, Centre National de Référence de la Maladie de WilsonHôpital Lariboisière
  • Emmanuel Roze
    • AP-HP, Fédération des Maladies du Système NerveuxHôpital Pitié-Salpêtrière
    • AP-HP, Centre d’Investigation Clinique 9503INSERM
    • Université Pierre et Marie Curie-Paris-6 INSERM UMRS 952, CNRS UMR 7224
  • Guillaume Taieb
    • Service de NeurologieHôpital Gui de Chauliac
  • Thierry Billette De Villemeur
    • AP-HP, Service de NeuropédiatrieHôpital Trousseau
  • Sandrine Vuillaumier-Barrot
    • AP-HP, Service de Biochimie AHôpital Bichat-Claude Bernard
  • Marie Vidailhet
    • Université Pierre et Marie Curie-Paris-6, CRICM /Inserm UMR_S975 /CNRS UMR 7225
    • AP-HP, Fédération des Maladies du Système NerveuxHôpital Pitié-Salpêtrière
  • Richard Levy
    • AP-HP, Service de NeurologieHôpital St Antoine
    • Université Pierre et Marie Curie-Paris-6, CRICM /Inserm UMR_S975 /CNRS UMR 7225
Original Article

DOI: 10.1007/s10545-010-9264-6

Cite this article as:
Roubergue, A., Apartis, E., Mesnage, V. et al. J Inherit Metab Dis (2011) 34: 483. doi:10.1007/s10545-010-9264-6

Abstract

Glucose transporter 1 deficiency syndrome (GLUT1-DS) is due to heterozygous mutation of the glucose transporter type 1 gene (GLUT1/SLC2A1). GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (PED), as well as seizures, mental retardation and hypoglycorrhachia. Tremor was recently shown to be part of the phenotype, but its clinical and electrophysiological features have not yet been described in detail, and GLUT1 tremor reports are rare. We describe two patients, a young woman and her mother, who were referred to us for tremor. We also systematically review published cases of GLUT1-DS with tremor (14 cases, including ours), focusing on clinical features. In most cases (10/14), the tremor, which involved the limbs and voice, fulfilled clinical criteria for dystonic tremor (DT), occurring in body areas affected by dystonia. Tremor was the only permanent symptom in 2 cases. Recordings, reported here for the first time, showed an irregular 6- to 8.5-Hz tremor compatible with DT in our two patients. These findings show that tremor, and particularly DT, may be a presenting symptom of GLUT1-DS. Patients who present with dystonic tremor, with or without mental retardation, seizures, movement disorders and/or a family history, should therefore be screened for GLUT1-DS.

Copyright information

© SSIEM and Springer 2011