The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan

Anna Elisabetta Vaudano, Sara Olivotto, Andrea Ruggieri, Giuliana Gessaroli, Francesca Talami, Antonia Parmeggiani, Valentina De Giorgis, Pierangelo Veggiotti, Stefano Meletti

Research output: Contribution to journalArticle

Abstract

Glucose transporter type I deficiency syndrome (GLUT1DS) is an encephalopathic disorder due to a chronic insufficient transport of glucose into the brain. PET studies in GLUT1DS documented a widespread cortico-thalamic hypometabolism and a signal increase in the basal ganglia, regardless of age and clinical phenotype. Herein, we captured the pattern of functional connectivity of distinct striatal, cortical, and cerebellar regions in GLUT1DS (10 children, eight adults) and in healthy controls (HC, 19 children, 17 adults) during rest. Additionally, we explored for regional connectivity differences in GLUT1 children versus adults and according to the clinical presentation. Compared to HC, GLUT1DS exhibited increase connectivity within the basal ganglia circuitries and between the striatal regions with the frontal cortex and cerebellum. The excessive connectivity was predominant in patients with movement disorders and in children compared to adults, suggesting a correlation with the clinical phenotype and age at fMRI study. Our findings highlight the primary role of the striatum in the GLUT1DS pathophysiology and confirm the dependency of symptoms to the patients' chronological age. Despite the reduced chronic glucose uptake, GLUT1DS exhibit increased connectivity changes in regions highly sensible to glycopenia. Our results may portrait the effect of neuroprotective brain strategy to overcome the chronic poor energy supply during vulnerable ages.

Original languageEnglish
JournalHuman Brain Mapping
DOIs
Publication statusE-pub ahead of print - Nov 11 2019

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Corpus Striatum
Basal Ganglia
Phenotype
Glucose
Facilitative Glucose Transport Proteins
Movement Disorders
Brain
Frontal Lobe
Cerebellum
Magnetic Resonance Imaging

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Vaudano, A. E., Olivotto, S., Ruggieri, A., Gessaroli, G., Talami, F., Parmeggiani, A., ... Meletti, S. (2019). The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan. Human Brain Mapping. https://doi.org/10.1002/hbm.24815

The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan. / Vaudano, Anna Elisabetta; Olivotto, Sara; Ruggieri, Andrea; Gessaroli, Giuliana; Talami, Francesca; Parmeggiani, Antonia; De Giorgis, Valentina; Veggiotti, Pierangelo; Meletti, Stefano.

In: Human Brain Mapping, 11.11.2019.

Research output: Contribution to journalArticle

Vaudano, AE, Olivotto, S, Ruggieri, A, Gessaroli, G, Talami, F, Parmeggiani, A, De Giorgis, V, Veggiotti, P & Meletti, S 2019, 'The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan', Human Brain Mapping. https://doi.org/10.1002/hbm.24815
Vaudano, Anna Elisabetta ; Olivotto, Sara ; Ruggieri, Andrea ; Gessaroli, Giuliana ; Talami, Francesca ; Parmeggiani, Antonia ; De Giorgis, Valentina ; Veggiotti, Pierangelo ; Meletti, Stefano. / The effect of chronic neuroglycopenia on resting state networks in GLUT1 syndrome across the lifespan. In: Human Brain Mapping. 2019.
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