GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

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 wi...

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Bibliographic Details
Published in:Movement disorders 2009-08, Vol.24 (11), p.1684-1688
Main Authors: Schneider, Susanne A., Paisan-Ruiz, Coro, Garcia-Gorostiaga, Ines, Quinn, Niall P., Weber, Yvonne G., Lerche, Holger, Hardy, John, Bhatia, Kailash P.
Format: Article
Language:English
Subjects:
Age of Onset
Amino Acid Substitution
Atrophy
Biological and medical sciences
Brain - pathology
Cerebellum - pathology
Chromosomes, Human, Pair 1 - genetics
Comorbidity
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA Mutational Analysis
Epilepsy, Absence - epidemiology
Exercise
Female
Genetic Heterogeneity
genotype phenotype
Glucose Transporter Type 1 - deficiency
Glucose Transporter Type 1 - genetics
GLUT1
Histocompatibility Antigens Class I - genetics
Humans
Male
Medical sciences
Migraine Disorders - epidemiology
Minor Histocompatibility Antigens
Movement Disorders - diet therapy
Movement Disorders - drug therapy
Movement Disorders - epidemiology
Movement Disorders - genetics
Mutation, Missense
Neurology
paroxysmal dyskinesias
PED
Point Mutation
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Summary: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. © 2009 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.22507