Atypical Manifestations in Glut1 Deficiency Syndrome

Giorgis, Valentina De; Varesio, Costanza; Baldassari, Cristina M.; Piazza, E.; Olivotto, Sara; Macasaet, Joyce Ann; Balottin, Umberto; Veggiotti, Pierangelo

doi:10.1177/0883073816650033

Cited by 27 publications

(32 citation statements)

References 35 publications

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“…OGC have not been described in alternating hemiplegia of childhood, although paroxysmal oculomotor abnormalities including nystagmus and monocular deviations are common . Glucose transporter type 1 (GLUT1) deficiency causes two syndromes: infantile‐onset seizures with delayed development, microcephaly, movement disorders, and OGC (uncommon) and a second syndrome of exercise‐induced dyskinesias/dystonia without OGC.…”

Section: Causes Of Ogcmentioning

confidence: 99%

Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment

Slow

Lang

2017

Mov Disord.

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Oculogyric crises are a rare movement disorder characterized by paroxysmal, conjugate, tonic, usually upwards, deviation of the eyes. Causes for oculogyric crises are limited and include complications of dopamine-receptor blocking medications and neurometabolic disorders affecting dopamine metabolism, suggesting that an underlying hypodopaminergic state is important to the pathogenesis. Mimickers of oculogyric crises exist, and we propose diagnostic criteria to distinguish true oculogyric crises. Recognition of oculogyric crises is important for the diagnosis and appropriate treatment of rare disorders, and an approach to investigations in oculogyric crises is proposed. © 2017 International Parkinson and Movement Disorder Society.

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Section: Causes Of Ogcmentioning

confidence: 99%

Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment

Slow

Lang

2017

Mov Disord.

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“…In addition to seizures, involuntary movements are common symptoms of GLUT1DS (De Giorgis et al., ) which also demonstrated a positive response to KD, (Leen et al., ; Veggiotti et al., ), even if improvement was less evident compared to the effect on seizures.…”

Section: Introductionmentioning

confidence: 99%

Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome

Giorgis¹,

Masnada

Varesio

et al. 2019

Brain and Behavior

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Introduction Glucose Transporter Type I Deficiency Syndrome ( GLUT 1 DS ) classical symptoms are seizures, involuntary movements, and cognitive impairment but so far the literature has not devoted much attention to the last. Methods In our retrospective study involving 25 patients with established GLUT 1 DS diagnosis, we describe the cognitive impairment of these patients in detail and their response to the ketogenic diet in terms of cognitive improvement. Results We outlined a specific cognitive profile where performance skills were more affected than verbal ones, with prominent deficiencies in visuospatial and visuomotor abilities. We demonstrated the efficacy of ketogenic diet ( KD ) on cognitive outcome, with particular improvement tin total and verbal IQ ; we found that timing of KD introduction was inversely related to IQ outcome: the later the starting of KD , the lower the IQ , more notable nonverbal scale (verbal IQ correlation coefficient −0.634, p ‐value = 0.015). We found a significant direct correlation between cognition and CSF /blood glucose ratio values: the higher the ratio, the better the cognitive improvement in response to diet (from T0–baseline evaluation to T1 on average 18 months after introduction of KD ‐: TIQ correlation coefficient 0.592, p ‐value = 0.26; VIQ correlation coefficient 0.555, p ‐value = 0.039). Finally, we demonstrated that a longer duration of treatment is necessary to find an improvement in patients with “severely low ratio.” Conclusion Our results were consistent with the hypothesis that timing of the diet introduction is a predictive factor of cognitive outcome in these patients, confirming that earlier initiation of the diet may prevent the onset of all GLUT 1 DS symptoms: epilepsy, movement disorders, and cognitive impairment.

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“…In the late presentation form, paroxysmal exercise‐induced dyskinesia occurs that predominantly manifests as dystonia, chorea, and ballism. Epilepsy is also observed . Abnormalities of eye movements are common and may be highly characteristic brief multidirectional paroxysmal episodes of rapid eye movements in combination with head movements in the same direction, a phenomenon called aberant gaze saccades .…”

Section: Inborn Errors Of Metabolism Associated With Ocular Motor Dismentioning

confidence: 99%

“…Epilepsy is also observed. 49 Abnormalities of eye movements are common and may be highly characteristic brief multidirectional paroxysmal episodes of rapid eye movements in combination with head movements in the same direction, a phenomenon called aberant gaze saccades. 50 Eye rolling and fluttering, strabismus, opsoclonus, and limitation of vertical eye movements have also been described.…”

Section: Disorders Of Carbohydrate Metabolismmentioning

confidence: 99%

Eye movement disorders and neurological symptoms in late‐onset inborn errors of metabolism

et al. 2018

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Inborn errors of metabolism in adults are still largely unexplored. Despite the fact that adult‐onset phenotypes have been known for many years, little attention is given to these disorders in neurological practice. The adult‐onset presentation differs from childhood‐onset phenotypes, often leading to considerable diagnostic delay. The identification of these patients at the earliest stage of disease is important, given that early treatment may prevent or lessen further brain damage. Neurological and psychiatric symptoms occur more frequently in adult forms. Abnormalities of eye movements are also common and can be the presenting sign. Eye movement disorders can be classified as central or peripheral. Central forms are frequently observed in lysosomal storage disorders, whereas peripheral forms are a key feature of mitochondrial disease. Furthermore, oculogyric crisis is an important feature in disorders affecting dopamine syntheses or transport. Ocular motor disorders are often not reported by the patient, and abnormalities can be easily overlooked in a general examination. In adults with unexplained psychiatric and neurological symptoms, a special focus on examination of eye movements can serve as a relatively simple clinical tool to detect a metabolic disorder. Eye movements can be easily quantified and analyzed with video‐oculography, making them a valuable biomarker for following the natural course of disease or the response to therapies. Here, we review, for the first time, eye movement disorders that can occur in inborn errors of metabolism, with a focus on late‐onset forms. We provide a step‐by‐step overview that will help clinicians to examine and interpret eye movement disorders. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

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Atypical Manifestations in Glut1 Deficiency Syndrome

Cited by 27 publications

References 35 publications

Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment

Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment

Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome

Eye movement disorders and neurological symptoms in late‐onset inborn errors of metabolism

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