Original Article

Journal of Inherited Metabolic Disease

, Volume 34, Issue 2, pp 483-488

First online:

Dystonic tremor caused by mutation of the glucose transporter gene GLUT1

  • Anne RoubergueAffiliated withAP-HP, Service de Neuropédiatrie, Hôpital TrousseauAP-HP, Service de Neurologie, Hôpital St AntoineService de Neurologie, Hôpital Saint-Antoine Email author 
  • , Emmanuelle ApartisAffiliated withAP-HP, Service de Physiologie, Hôpital St AntoineUniversité Pierre et Marie Curie-Paris-6, CRICM /Inserm UMR_S975 /CNRS UMR 7225
  • , Valérie MesnageAffiliated withAP-HP, Service de Neurologie, Hôpital St Antoine
  • , Diane DoummarAffiliated withAP-HP, Service de Neuropédiatrie, Hôpital Trousseau
  • , Jean-Marc TrocelloAffiliated withAP-HP, Centre National de Référence de la Maladie de Wilson, Hôpital Lariboisière
  • , Emmanuel RozeAffiliated withAP-HP, Fédération des Maladies du Système Nerveux, Hôpital Pitié-SalpêtrièreAP-HP, Centre d’Investigation Clinique 9503, INSERMUniversité Pierre et Marie Curie-Paris-6 INSERM UMRS 952, CNRS UMR 7224
  • , Guillaume TaiebAffiliated withService de Neurologie, Hôpital Gui de Chauliac
  • , Thierry Billette De VillemeurAffiliated withAP-HP, Service de Neuropédiatrie, Hôpital Trousseau
  • , Sandrine Vuillaumier-BarrotAffiliated withAP-HP, Service de Biochimie A, Hôpital Bichat-Claude Bernard
    • , Marie VidailhetAffiliated withUniversité Pierre et Marie Curie-Paris-6, CRICM /Inserm UMR_S975 /CNRS UMR 7225AP-HP, Fédération des Maladies du Système Nerveux, Hôpital Pitié-Salpêtrière
    • , Richard LevyAffiliated withAP-HP, Service de Neurologie, Hôpital St AntoineUniversité Pierre et Marie Curie-Paris-6, CRICM /Inserm UMR_S975 /CNRS UMR 7225

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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.