title: Atypical Manifestations in Glut1 Deficiency Syndrome.
abstract: Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations. However, there are other clinical manifestations that we consider equally peculiar but that have so far been poorly described in literature. In this review, supported by a video contribution, we will accurately describe this type of clinical manifestation such as oculogyric crises, weakness, paroxysmal kinesigenic and nonkinesigenic dyskinesia in order to provide an additional instrument for a correct, rapid diagnosis.
authors.affiliation: Brain and Behaviour Department, University of Pavia, Pavia, Italy.
authors.forename: V
authors.initials: V
authors.lastname: De Giorgis
authors.affiliation: Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Varesio
authors.affiliation: Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Baldassari
authors.affiliation: Brain and Behaviour Department, University of Pavia, Pavia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Piazza
authors.affiliation: Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Olivotto
authors.affiliation: Department of Neurosciences, Makati Medical Center, Manila, Philippines.
authors.forename: J
authors.initials: J
authors.lastname: Macasaet
authors.affiliation: Brain and Behaviour Department, University of Pavia, Pavia, Italy Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy.
authors.forename: U
authors.initials: U
authors.lastname: Balottin
authors.affiliation: Brain and Behaviour Department, University of Pavia, Pavia, Italy Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy pierangelo.veggiotti@unipv.it.
authors.forename: P
authors.initials: P
authors.lastname: Veggiotti
mesh_terms: D000293:Adolescent; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D051272:Glucose Transporter Type 1 / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D012189:Retrospective Studies; D014741:Video Recording; D055815:Young Adult
chemical_list: D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human
keywords: GLUT1DS; SCL2A1; fatigue; oculogyric crises; paroxysmal kinesigenic dyskinesia; paroxysmal nonkinesigenic dyskinesia