Paroxysmal exercise-induced dystonia due to GLUT1 mutation can be responsive to levodopa: A case report

Journal of Neurology

Volumn 261, Issue 3, 2014, Pages 615-616

  Baschieri, Francesca ^a   Batla, Amit ^b   Erro, Roberto ^b   Ganos, Christos ^b   Cordivari, Carla ^c   Bhatia, Kailash P ^a,b  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER 1; LEVODOPA; SLC2A1 PROTEIN, HUMAN;

ADULT; CASE REPORT; DISEASE EXACERBATION; DRUG DOSE REDUCTION; DRUG TREATMENT FAILURE; GENE MUTATION; GENETIC DISORDER; HUMAN; KETOGENIC DIET; LETTER; MALE; MIDDLE AGED; MOTOR DYSFUNCTION; NEUROLOGIC EXAMINATION; PALLIATIVE THERAPY; PAROXYSMAL DYSTONIA; PAROXYSMAL EXERCISE INDUCED DYSKINESIA; PRIORITY JOURNAL; RISK REDUCTION; TREATMENT REFUSAL; TREATMENT RESPONSE; DYSTONIC DISORDERS; GENETICS; MUTATION; TREATMENT OUTCOME;

DYSTONIC DISORDERS; GLUCOSE TRANSPORTER TYPE 1; HUMANS; LEVODOPA; MALE; MIDDLE AGED; MUTATION; TREATMENT OUTCOME;

EID: 84896492057     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7250-x     Document Type: Letter

References (9)

1. Bhatia KP, Soland VL, Bhatt MH, Quinn NP, Marsden DC (1997) Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature. Mov Disord 12:1007-1012
2. 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, Münchau 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
3. 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 LRF, 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
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. Bhatia KP (2011) Paroxysmal dyskinesias. Mov disord 26:1157-1165
6. De Kinderen RJA, Lambrechts DAJE, Postulart D, Kessels AGH, Hendriksen JGM, Aldenkamp AP, Evers SMAA, Majoie MHJM (2011) Research into the (Cost-) effectiveness of the ketogenic diet among children and adolescents with intractable epilepsy: design of a randomized controlled trial. BMC Neurol 11:10
7. 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
8. Barnett MH, Jarman PR, Heales SJ, Bhatia KP (2002) Further case of paroxysmal exercise-induced dystonia and some insights into pathogenesis. Mov Disord 17:1386-1387
9. Demirkiran M, Jankovic J (1995) Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 38:571-579