GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

Movement Disorders

Volumn 24, Issue 11, 2009, Pages 1684-1688

  Schneider, Susanne A ^a   Paisan Ruiz, Coro ^a   Garcia Gorostiaga, Ines ^a,b   Quinn, Niall P ^a   Weber, Yvonne G ^c   Lerche, Holger ^c,d   Hardy, John ^a   Bhatia, Kailash P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^c Neurologische Klinik   (Germany)

^d UNIVERSITY OF ULM   (Germany)

Author keywords

Genotype phenotype; GLUT1; Paroxysmal dyskinesias; PED

Indexed keywords

ACETAZOLAMIDE; ALANINE; CARBAMAZEPINE; CLONAZEPAM; CYSTEINE; GLUCOSE TRANSPORTER 1; GLYCINE; HALOPERIDOL; LEVODOPA; MYOFIBRILLOGENESIS REGULATOR 1; PIZOTIFEN; REGULATOR PROTEIN; THREONINE; TRIHEXYPHENIDYL; UNCLASSIFIED DRUG; VALPROIC ACID;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CEREBELLUM ATROPHY; CHOREOATHETOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DYSKINESIA; DYSTONIA; FEMALE; GENE MUTATION; GENETIC SCREENING; HAIR LOSS; HEMIDYSTONIA; HEMIPLEGIC MIGRAINE; HUMAN; MALE; MIGRAINE WITH AURA; MUTATIONAL ANALYSIS; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; PAROXYSMAL EXERCISE INDUCED DYSKINESIA; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIDE EFFECT; WEIGHT GAIN;

AGE OF ONSET; AMINO ACID SUBSTITUTION; ATROPHY; BRAIN; CEREBELLUM; CHROMOSOMES, HUMAN, PAIR 1; COMORBIDITY; DNA MUTATIONAL ANALYSIS; EPILEPSY, ABSENCE; EXERCISE; FEMALE; GENETIC HETEROGENEITY; GLUCOSE TRANSPORTER TYPE 1; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MALE; MIGRAINE DISORDERS; MOVEMENT DISORDERS; MUTATION, MISSENSE; POINT MUTATION;

EID: 69949186743     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22507     Document Type: Article

References (31)

1. Lotze T, Jankovic J. Paroxysmal kinesigenic dyskinesias. Semin Pediatr Neurol 2003;10:68-79.
2. Swoboda KJ, Soong B, McKenna C, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 2000;55:224-230.
3. Valente EM, Spacey SD, Wali GM, et al. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 2000;123 (Part 10): 2040-2045.
4. Lee HY, Xu Y, Huang Y, et al. The gene for paroxysmal nonkinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 2004;13:3161-3170.
5. Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995;38:571-579.
6. Bhatia KP, Soland VL, Bhatt MH, Quinn NP, Marsden CD. Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature. Mov Disord 1997;12:1007-1012.
7. Bozi M, Bhatia KP. Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease. Mov Disord 2003;18:1545-1547.
8. Munchau A, Valente EM, Shahidi GA, et al. A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. J Neurol Neurosurg Psychiatry 2000;68:609-614.
9. Margari L, Perniola T, Illiceto G, et al. Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder. Neurol Sci 2000;21:165-172.
10. Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and a cation leak of this glucose transporter is linked to hemolytic anemia. J Clin Invest 2008;11:2157-2168.
11. Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLCZA1, encoding the glucose transporter GLUT1. Brain 2008;131:1831-1344.
12. Camargos S, Scholz S, Simon-Sanchez J, et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identifi cation of a segregating mutation in the stress response protein prkra. Lancet Neurol 2008;7:207-215.
13. Klepper J, Leiendecker B. GLUT1 deficiency syndrome - 2007 update. Dev Med Child Neurol 2007;49:707-716.
14. Klepper J, Willemsen M, Verrips A, et al. Autosomal dominant transmission of GLUT1 deficiency. Hum Mol Genet 2001;10:63-68.
15. Fujii T, Ho YY,Wang D, et al. Three Japanese patients with glucose transporter type 1 deficiency syndrome. Brain Dev 2007;29:92-97.
16. Wang D, Ho YY, Pascual J, et al. Glut-1 deficiency-syndrome (Glut-1 DS): R333W genotype and paternal mosaicismype and paternal. Ann Neurol 2001;50:S124. [abstract].
17. Wang D, Pascual JM, Yang H, et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol 2005;57: 111-118.
18. Conti AM, Frucht S, Fahn S. A new cariant of paroxysmal exercise- induced dyskinesia. Mov Disord 2006;21 (Suppl 15):S388-S389 [abstract].
19. Neville BG, Besag FM, Marsden CD. Exercise induced steroid dependent dystonia, ataxia, and alternating hemiplegia associated with epilepsy. J Neurol Neurosurg Psychiatry 1998;65:241-244.
20. Ney GC, Lantos G, Barr WB, Schaul N. Cerebellar atrophy in patients with long-term phenytoin exposure and epilepsy. Arch Neurol 1994;51:767-771.
21. Sobaniec-Lotowska ME, Sobaniec W. Morphological features of encephalopathy after chronic administration of the antiepileptic drug valproate to rats. A transmission electron microscopic study of capillaries in the cerebellar cortex. Exp Toxicol Pathol 1996;48:65-75.
22. Sobaniec-Lotowska M, Sobaniec W, Augustynowicz A. Morphometric analysis of the cerebellar cortex capillaries in the course of experimental valproate encephalopathy and after chronic exposure to sodium valproate using transmission electron microscopy. Folia Neuropathol 2001;39:277-280.
23. Katzenschlager R, Costa D, Gacinovic S, Lees AJ. [(123)I]-FPCIT-SPECT in the early diagnosis of PD presenting as exerciseinduced dystonia. Neurology 2002;59:1974-1976.
24. Bhatia KP. The paroxysmal dyskinesias. J Neurol 1999;246:149-155.
25. Guimaraes J, Vale-Santos JE. Paroxysmal dystonia induced by exercise and acetazolamide. Eur J Neurol 2000;7:237-240.
26. Ito S, Oguni H, Ito Y, Ishigaki K, Ohinata J, Osawa M. Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome. Brain Dev 2008;30:226-228.
27. Agus DB, Gambhir SS, Pardridge WM, et al. Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters. J Clin Invest 1997;100:2842-2848.
28. Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998;18:188-191.
29. Brockmann K, Wang D, Korenke CG, et al. Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol 2001;50:476-485.
30. de Saint-Martin A, Laugel V, Sabourdy C, et al. GLUT-1 deficiency associated with paroxysmal dyskinesia and epilepsy: about 2 new cases. Epilepsia 2007;48 (S6):A1.134 [abstract].
31. Risch NJ, Bressman SB, deLeon D, et al. Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am J Hum Genet 1990;46:533-538.