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

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References

  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

    Article  CAS  PubMed  Google Scholar 

  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

    PubMed Central  CAS  PubMed  Google Scholar 

  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

    Article  PubMed Central  PubMed  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  5. Bhatia KP (2011) Paroxysmal dyskinesias. Mov disord 26:1157–1165

    Article  PubMed  Google Scholar 

  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

    Article  PubMed Central  PubMed  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  9. Demirkiran M, Jankovic J (1995) Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 38:571–579

    Article  CAS  PubMed  Google Scholar 

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Correspondence to Kailash P. Bhatia.

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Baschieri, F., Batla, A., Erro, R. et al. Paroxysmal exercise-induced dystonia due to GLUT1 mutation can be responsive to levodopa: a case report. J Neurol 261, 615–616 (2014). https://doi.org/10.1007/s00415-014-7250-x

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  • DOI: https://doi.org/10.1007/s00415-014-7250-x

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