title: GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
abstract: Paroxysmal exercise-induced dyskinesias (PED) are involuntary intermittent movements triggered by prolonged physical exertion. Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35-p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de-novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom.
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Schneider
authors.forename: Coro
authors.initials: C
authors.lastname: Paisan-Ruiz
authors.forename: Ines
authors.initials: I
authors.lastname: Garcia-Gorostiaga
authors.forename: Niall P
authors.initials: NP
authors.lastname: Quinn
authors.forename: Yvonne G
authors.initials: YG
authors.lastname: Weber
authors.forename: Holger
authors.initials: H
authors.lastname: Lerche
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D017668:Age of Onset; D019943:Amino Acid Substitution; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D015897:Comorbidity; D004252:DNA Mutational Analysis; D004832:Epilepsy, Absence / Q000453:epidemiology; D015444:Exercise; D005260:Female; D018740:Genetic Heterogeneity; D051272:Glucose Transporter Type 1 / Q000172:deficiency / Q000235:genetics*; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008881:Migraine Disorders / Q000453:epidemiology; D015778:Minor Histocompatibility Antigens; D009069:Movement Disorders / Q000178:diet therapy / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation
chemical_list: D051272:Glucose Transporter Type 1; D015395:Histocompatibility Antigens Class I; C094840:MR1 protein, human; D015778:Minor Histocompatibility Antigens; C495677:SLC2A1 protein, human