Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: A novel GLUT-1 mutation with benign phenotype

Tommaso Bovi, Alfonso Fasano, Ina Juergenson, Cinzia Gellera, Barbara Castellotti, Elena Fontana, Michele Tinazzi

Research output: Contribution to journal › Article

Abstract

Paroxysmal exercise-induced dyskinesia (PED) is a rare form of dystonia induced by prolonged exercise, usually involving lower limbs. PED has been recently described as a possible clinical manifestation of mutations of SLC2A1 gene, encoding for the glucose transport GLUT-1. We report a case of a young woman with a mild form of PED associated with self-limiting partial epilepsy. She carries a novel sporadic heterozygous mutation of the SLC2A1 gene. Diagnostic difficulties and possible treatment with carbamazepine are discussed.

Original languageEnglish
Pages (from-to)479-481
Number of pages3
JournalParkinsonism and Related Disorders
Volume17
Issue number6
DOIs
Publication statusPublished - Jul 2011

Fingerprint

Partial Epilepsy
Dyskinesias
Exercise
Phenotype
Mutation
Dystonia
Carbamazepine
Genes
Lower Extremity
Glucose
Therapeutics

Keywords

  • Epilepsy
  • GLUT-1 deficiency syndrome
  • Paroxysmal exercise-induced dystonia

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

Cite this

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy : A novel GLUT-1 mutation with benign phenotype. / Bovi, Tommaso; Fasano, Alfonso; Juergenson, Ina; Gellera, Cinzia; Castellotti, Barbara; Fontana, Elena; Tinazzi, Michele.

In: Parkinsonism and Related Disorders, Vol. 17, No. 6, 07.2011, p. 479-481.

Research output: Contribution to journal › Article

Bovi, T, Fasano, A, Juergenson, I, Gellera, C, Castellotti, B, Fontana, E & Tinazzi, M 2011, 'Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: A novel GLUT-1 mutation with benign phenotype', Parkinsonism and Related Disorders, vol. 17, no. 6, pp. 479-481. https://doi.org/10.1016/j.parkreldis.2011.03.015
Bovi T, Fasano A, Juergenson I, Gellera C, Castellotti B, Fontana E et al. Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: A novel GLUT-1 mutation with benign phenotype. Parkinsonism and Related Disorders. 2011 Jul;17(6):479-481. https://doi.org/10.1016/j.parkreldis.2011.03.015
Bovi, Tommaso ; Fasano, Alfonso ; Juergenson, Ina ; Gellera, Cinzia ; Castellotti, Barbara ; Fontana, Elena ; Tinazzi, Michele. / Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy : A novel GLUT-1 mutation with benign phenotype. In: Parkinsonism and Related Disorders. 2011 ; Vol. 17, No. 6. pp. 479-481.
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