To describe a characteristic paroxysmal eye–head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS).
We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients.
A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age in 7/8 patients with documented long-term course. Episodes were brief (usually <5 minutes). Video analysis revealed that the eye movements were rapid, multidirectional, and often accompanied by a head movement in the same direction. Eye movements were separated by clear intervals of fixation, usually ranging from 200 to 800 ms. The movements were consistent with eye–head gaze saccades. These movements can be distinguished from opsoclonus by the presence of a clear intermovement fixation interval and the association of a same-direction head movement.
Non profit: Indian Institute of Science; University of Giessen, Germany; University of Munich; Nanyang Technological University, Singapore; Beijing Normal University, China; Rockefeller University, New York
Experimental Brain Research, Associate Editor; Proceedings of the National Academy of Science, reviewing editor; Cerebral Cortex, Associate Editor
NEI/NIH1 R01 EY017039-02 (Goldberg)5/1/2008-07/30/2019NEI/NIH ,1P30 EY019007-01 (Goldberg PI) 7/1/2010-7/31/2021
SMA Foundation.The Hope for Children Research Foundation.Pediatric Neurotransmitter Disease Association.International Reye Syndrome Foundation.The Will FoundationChairman, Data Safety Monitoring Board, Cytokinetics Chairman, Canavan Disease Foundation Advisory Board, NYCScientific Advisory Board, Metafora Glut1 Deficiency FoundationThe Grace Wilsey Foundation
Current Opinion in Neurology, Editorial BoardMedlink in Neurology, Editorial BoardJournal of Pediatric Neurology Editorial Board (Turkish journal)
Gene therapy for Glut1 Deficiency patentInternational PCT Patent Application No. PCT/US2016/021810 Based on U.S. Provisional Patent Application Serial No.: 62/130,899Title: RECOMBINANT GLUT1 ADENO-ASSOCIATED VIRAL VECTOR CONSTRUCTS AND RELATED METHODS FOR RESTORING GLUT1 EXPRESSIONFiled: March 10, 2016Our Ref.: 01001/003887-WO0
Ionis PharmaceuticalsBiogen Pharmaceuticals Ultragenyx PharmaceuticalsSarepta Therapeutics
SMA Foundation.The Colleen Giblin Foundation.The Will FoundationThe Pediatric Neurotransmitter Disease AssociationThe Glut1 Deficiency Foundation
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