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Journal of Pediatric Neurology 2015; 13(04): 168-173
DOI: 10.1055/s-0035-1558862
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Movement Disorders in Glucose Transporter Type 1 Deficiency

Roser Pons
1   First Department of Pediatrics, University of Athens, Children's Hospital Agia Sophia, Athens, Greece
,
Darryl C. De Vivo
2   Division of Pediatric Neurology, Department of Neurology, Columbia University College of Physician and Surgeons, New York, United States
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Publikationsverlauf

18. Januar 2015

19. Januar 2015

Publikationsdatum:
07. August 2015 (online)

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Abstract

Movement disorders constitute an important and distinctive clinical consequence of glucose transporter type 1 deficiency. Gait disturbances and dyskinesias can be present chronically, and can fluctuate daily with fasting, exercise, and other environmental triggers. Patients manifest an array of paroxysmal disorders often associated with variable motor symptoms, also precipitated by fasting, exercise, and other stressors. Ketogenic diet is the treatment of choice in this condition and can offer substantial improvement of motor symptoms, particularly if instituted immediately after the onset of first clinical symptoms.

Keywords

glucose transporter - dystonia - chorea - tremor - ataxia - dyskinesias
 

  • References

  • 1 De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991; 325 (10) 703-709
    CrossrefPubMedSuche in Google Scholar
  • 2 Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep 2013; 13 (4) 342
    CrossrefPubMedSuche in Google Scholar
  • 3 Wang D, Pascual JM, Yang H , et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol 2005; 57 (1) 111-118
    CrossrefPubMedSuche in Google Scholar
  • 4 Leen WG, Klepper J, Verbeek MM , et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010; 133 (Pt 3) 655-670
    CrossrefPubMedSuche in Google Scholar
  • 5 Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA. GLUT1 deficiency syndrome into adulthood: a follow-up study. J Neurol 2014; 261 (3) 589-599
    CrossrefPubMedSuche in Google Scholar
  • 6 Verrotti A, D'Egidio C, Agostinelli S, Gobbi G. Glut1 deficiency: when to suspect and how to diagnose?. Eur J Paediatr Neurol 2012; 16 (1) 3-9
    CrossrefPubMedSuche in Google Scholar
  • 7 De Giorgis V, Veggiotti P. GLUT1 deficiency syndrome 2013: current state of the art. Seizure 2013; 22 (10) 803-811
    CrossrefPubMedSuche in Google Scholar
  • 8 Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev 2009; 31 (7) 545-552
    CrossrefPubMedSuche in Google Scholar
  • 9 Alter AS, Engelstad K, Hinton VJ , et al. Long-term clinical course of Glut1 deficiency syndrome. J Child Neurol 2015; 30 (2) 160-169
    CrossrefPubMedSuche in Google Scholar
  • 10 Pons R, Collins A, Rotstein M, Engelstad K, De Vivo DC. The spectrum of movement disorders in Glut-1 deficiency. Mov Disord 2010; 25 (3) 275-281
    CrossrefPubMedSuche in Google Scholar
  • 11 Levy B, Wang D, Ullner PM , et al. Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. Mol Genet Metab 2010; 100 (2) 129-135
    CrossrefPubMedSuche in Google Scholar
  • 12 Yang H, Wang D, Engelstad K , et al. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol 2011; 70 (6) 996-1005
    CrossrefPubMedSuche in Google Scholar
  • 13 Klepper J, Scheffer H, Leiendecker B , et al. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. Neuropediatrics 2005; 36 (5) 302-308
    Thieme ConnectPubMedSuche in Google Scholar
  • 14 Pascual JM, Van Heertum RL, Wang D, Engelstad K, De Vivo DC. Imaging the metabolic footprint of Glut1 deficiency on the brain. Ann Neurol 2002; 52 (4) 458-464
    CrossrefPubMedSuche in Google Scholar
  • 15 Akman CI, Provenzano F, Wang D , et al. Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency. Epilepsy Res 2015; 110: 206-215
    CrossrefPubMedSuche in Google Scholar
  • 16 Friedman JR, Thiele EA, Wang D , et al. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord 2006; 21 (2) 241-245
    CrossrefPubMedSuche in Google Scholar
  • 17 Ito Y, Takahashi S, Kagitani-Shimono K , et al. Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. Brain Dev 2014; 7604 (14) 267-268
    PubMedSuche in Google Scholar
  • 18 Overweg-Plandsoen WC, Groener JE, Wang D , et al. GLUT-1 deficiency without epilepsy—an exceptional case. J Inherit Metab Dis 2003; 26 (6) 559-563
    CrossrefPubMedSuche in Google Scholar
  • 19 Zorzi G, Castellotti B, Zibordi F, Gellera C, Nardocci N. Paroxysmal movement disorders in GLUT1 deficiency syndrome. Neurology 2008; 71 (2) 146-148
    CrossrefPubMedSuche in Google Scholar
  • 20 Pérez-Dueñas B, Prior C, Ma Q , et al. Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. Arch Neurol 2009; 66 (11) 1410-1414
    PubMedSuche in Google Scholar
  • 21 Graham Jr JM. GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder. Eur J Med Genet 2012; 55 (5) 332-334
    CrossrefPubMedSuche in Google Scholar
  • 22 Anand G, Padeniya A, Hanrahan D , et al. Milder phenotypes of glucose transporter type 1 deficiency syndrome. Dev Med Child Neurol 2011; 53 (7) 664-668
    CrossrefPubMedSuche in Google Scholar
  • 23 Roubergue A, Apartis E, Mesnage V , et al. Dystonic tremor caused by mutation of the glucose transporter gene GLUT1. J Inherit Metab Dis 2011; 34 (2) 483-488
    CrossrefPubMedSuche in Google Scholar
  • 24 Urbizu A, Cuenca-León E, Raspall-Chaure M , et al. Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. J Neurol Sci 2010; 295 (1-2) 110-113
    CrossrefPubMedSuche in Google Scholar
  • 25 Weber YG, Storch A, Wuttke TV , et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008; 118 (6) 2157-2168
    PubMedSuche in Google Scholar
  • 26 Weber YG, Kamm C, Suls A , et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011; 77 (10) 959-964
    CrossrefPubMedSuche in Google Scholar
  • 27 Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I , et al. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord 2009; 24 (11) 1684-1688
    CrossrefPubMedSuche in Google Scholar
  • 28 Joshi C, Greenberg CR, De Vivo D, , Dong Wang, Chan-Lui W, Booth FA. GLUT1 deficiency without epilepsy: yet another case. J Child Neurol 2008; 23 (7) 832-834
    CrossrefPubMedSuche in Google Scholar
  • 29 Liu Y, Bao X, Wang D , et al. Allelic variations of glut-1 deficiency syndrome: the Chinese experience. Pediatr Neurol 2012; 47 (1) 30-34
    CrossrefPubMedSuche in Google Scholar
  • 30 Leen WG, Mewasingh L, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA. Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet. Mov Disord 2013; 28 (10) 1439-1442
    CrossrefPubMedSuche in Google Scholar
  • 31 Suls A, Dedeken P, Goffin K , et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008; 131 (Pt 7) 1831-1844
    CrossrefPubMedSuche in Google Scholar
  • 32 Koy A, Assmann B, Klepper J, Mayatepek E. Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy. Dev Med Child Neurol 2011; 53 (12) 1154-1156
    CrossrefPubMedSuche in Google Scholar
  • 33 Ito Y, Oguni H, Ito S, Oguni M, Osawa M. A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. Dev Med Child Neurol 2011; 53 (7) 658-663
    CrossrefPubMedSuche in Google Scholar
  • 34 Afawi Z, Suls A, Ekstein D , et al. Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. Epilepsia 2010; 51 (12) 2466-2469
    CrossrefPubMedSuche in Google Scholar
  • 35 Bovi T, Fasano A, Juergenson I , et al. Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype. Parkinsonism Relat Disord 2011; 17 (6) 479-481
    CrossrefPubMedSuche in Google Scholar
  • 36 Rotstein M, Doran J, Yang H, Ullner PM, Engelstad K, De Vivo DC. Glut1 deficiency and alternating hemiplegia of childhood. Neurology 2009; 73 (23) 2042-2044
    CrossrefPubMedSuche in Google Scholar
  • 37 Vuillaumier-Barrot S, Panagiotakaki E, Le Bizec C , et al; ENRAHs for SME Consortium. Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC). Neuropediatrics 2010; 41 (6) 267-269
    Thieme ConnectPubMedSuche in Google Scholar
  • 38 De Grandis E, Stagnaro M, Biancheri R , et al. Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood. J Child Neurol 2013; 28 (7) 863-866
    CrossrefPubMedSuche in Google Scholar
  • 39 Blumenschine M, Montes J, Rao AK , et al. The Six-Minute Walk Test Captures Weakness and Gait Abnormalities in Glut 1 Deficiency Syndrome. 66th Annual American Academy of Neurology Meeting. Philadelphia, PA, April 2014
    PubMed
  • 40 Ohshiro-Sasaki A, Shimbo H, Takano K, Wada T, Osaka H. A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. Pediatr Neurol 2014; 50 (1) 99-100
    CrossrefPubMedSuche in Google Scholar
  • 41 Mohammad SS, Coman D, Calvert S. Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature. J Paediatr Child Health 2014; 50 (12) 1025-1026
    PubMedSuche in Google Scholar
  • 42 Posar A, Santucci M. Unusual phenotype of glucose transport protein type 1 deficiency syndrome: a case report and literature review. J Pediatr Neurosci 2014; 9 (1) 36-38
    CrossrefPubMedSuche in Google Scholar
  • 43 Tzadok M, Nissenkorn A, Porper K , et al. The many faces of Glut1 deficiency syndrome. J Child Neurol 2014; 29 (3) 349-359
    CrossrefPubMedSuche in Google Scholar