Journal of Inherited Metabolic Disease

, Volume 34, Issue 2, pp 483–488

Dystonic tremor caused by mutation of the glucose transporter gene GLUT1

  • Anne Roubergue
  • Emmanuelle Apartis
  • Valérie Mesnage
  • Diane Doummar
  • Jean-Marc Trocello
  • Emmanuel Roze
  • Guillaume Taieb
  • Thierry Billette De Villemeur
  • Sandrine Vuillaumier-Barrot
  • Marie Vidailhet
  • Richard Levy
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

Authors and Affiliations

  • Anne Roubergue
    • 1
    • 2
    • 11
  • Emmanuelle Apartis
    • 3
    • 4
  • Valérie Mesnage
    • 2
  • Diane Doummar
    • 1
  • Jean-Marc Trocello
    • 5
  • Emmanuel Roze
    • 6
    • 7
    • 8
  • Guillaume Taieb
    • 9
  • Thierry Billette De Villemeur
    • 1
  • Sandrine Vuillaumier-Barrot
    • 10
  • Marie Vidailhet
    • 4
    • 6
  • Richard Levy
    • 2
    • 4
  1. 1.AP-HP, Service de NeuropédiatrieHôpital TrousseauParisFrance
  2. 2.AP-HP, Service de NeurologieHôpital St AntoineParisFrance
  3. 3.AP-HP, Service de PhysiologieHôpital St AntoineParisFrance
  4. 4.Université Pierre et Marie Curie-Paris-6, CRICM /Inserm UMR_S975 /CNRS UMR 7225ParisFrance
  5. 5.AP-HP, Centre National de Référence de la Maladie de WilsonHôpital LariboisièreParisFrance
  6. 6.AP-HP, Fédération des Maladies du Système NerveuxHôpital Pitié-SalpêtrièreParisFrance
  7. 7.AP-HP, Centre d’Investigation Clinique 9503INSERMParisFrance
  8. 8.Université Pierre et Marie Curie-Paris-6 INSERM UMRS 952, CNRS UMR 7224ParisFrance
  9. 9.Service de NeurologieHôpital Gui de ChauliacMontpellierFrance
  10. 10.AP-HP, Service de Biochimie AHôpital Bichat-Claude BernardParisFrance
  11. 11.Service de NeurologieHôpital Saint-AntoineParis Cedex12France