Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency

Journal of Neurology

Volumn 258, Issue 2, 2011, Pages 316-317

  Anheim, Mathieu ^a   Maillart, Elisabeth ^b   Vuillaumier Barrot, Sandrine ^c   Flamand Rouvière, Constance ^d   Pineau, Fanny ^a,e   Ewenczyk, Claire ^a,e   Riant, Florence ^f   Apartis, Emmanuelle ^a,g   Roze, Emmanuel ^a,e  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^c BICHAT HOSPITAL   (France)

^d BICÊTRE HOSPITAL   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f HÔPITAL LARIBOISIÈRE   (France)

^g HÔPITAL SAINT ANTOINE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; CAFFEINE; GLUCOSE TRANSPORTER 1; METHIONINE; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; ATAXIA; BALANCE DISORDER; CASE REPORT; CEREBROSPINAL FLUID; DETERIORATION; DEVELOPMENTAL COORDINATION DISORDER; DIET RESTRICTION; DISEASE SEVERITY; DYSKINESIA; EXERCISE; FATIGUE; FEMALE; GLUCOSE TRANSPORTER 1 DEFICIENCY; HEAT; HUMAN; LETTER; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PAROXYSMAL DYSKINESIA; PRIORITY JOURNAL; PROTEIN DEFICIENCY; STRESS; TREATMENT RESPONSE;

ACETAZOLAMIDE; ADOLESCENT; CARBONIC ANHYDRASE INHIBITORS; CHOREA; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HUMANS; MUTATION, MISSENSE;

EID: 79953783185     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-010-5702-5     Document Type: Letter

References (8)

1. Bhatia KP (1999) The paroxysmal dyskinesias. J Neurol 246:149-155
2. Guimaraes J, Vale Santos J (2000) Paroxysmal dystonia induced by exercise and acetazolamide. Eur J Neurol 7:237-240 (Pubitemid 32260576)
3. Pons R, Collins A, Rotstein M, Engelstad K, De Vivo DC (2010) The spectrum of movement disorders in Glut-1 deficiency. Mov Disord 25:275-281
4. Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, Quinn NP, Weber YG, Lerche H, Hardy J, Bhatia KP (2009) GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord 24:1684-1688
5. Strupp M, Zwergal A, Brandt T (2007) Episodic ataxia type 2. Neurotherapeutics 4:267-273 (Pubitemid 46467550)
6. Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, Kivity S, Ryvlin P, Claes LR, Deprez L, Maljevic S, Vargas A, Van Dyck T, Goossens D, Del-Favero J, Van Laere K, De Jonghe P, Van Paesschen W (2008) Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 131:1831-1844 (Pubitemid 351957463)
7. Wang D, Yang H, Shi L, Ma L, Fujii T, Engelstad K, Pascual JM, De Vivo DC (2008) Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. Pediatr Res 64:538-543
8. Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber SM, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Munchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H (2008) GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 118:2157-2168 (Pubitemid 351872334)