Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency

Akman, Cigdem I.; Provenzano, Frank A.; Wang, Dong; Engelstad, Kristin; Hinton, Veronica J.; Yu, Julia; Tikofsky, Ronald S.; Ichese, Masonari; Vivo, Darryl C. De

doi:10.1016/j.eplepsyres.2014.11.007

Cited by 36 publications

(42 citation statements)

References 43 publications

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“…The revealed hemodynamic changes in GLUT1DS are concordant with findings observed by means of positron emission tomography (PET) imaging in humans (Akman et al, 2015, Pascual et al, 2002–2007; Suls et al, 2008). Overall considered, interictal 18 F-fluorodeoxyglucose PET demonstrated a relatively homogeneous pattern with glucose hypometabolism in the mesial temporal regions, pre-postcentral gyrus, premotor cortex, inferior parietal lobule and thalamus, and a relative increased in the basal ganglia (putamen).…”

Section: Discussionsupporting

confidence: 85%

“…To note, previous functional neuroimaging studies in these patients (Akman et al, 2015, Pascual et al, 2002, 2007; Suls et al, 2008) were unable to obtain the EEG recordings at the time of imaging and the interictal/ictal state was assessed only by clinical inspection. In our study, the video-EEG recorded simultaneously during fMRI acquisitions allowed both to record the cerebral brain activity and to exclude the presence of any clinical seizure as well as paroxysmal movement disorder during the experimental sessions.…”

Section: Discussionmentioning

confidence: 99%

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Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

Vaudano

Olivotto

Ruggieri

et al. 2017

NeuroImage: Clinical

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PurposeTo provide imaging biomarkers of generalized spike-and-wave discharges (GSWD) in patients with GLUT1 deficiency syndrome (GLUT1DS).MethodsEighteen GLUT1DS patients with pathogenetic mutation in SLC2A1 gene were studied by means of Video-EEG simultaneously recorded with functional MRI (VideoEEG-fMRI). A control group of sex and age-matched patients affected by Genetic Generalized Epilepsy (GGE) with GSWD were investigated with the same protocol. Within and between groups comparison was performed as appropriated. For GLUT1DS, correlations analyses between the contrast of interest and the main clinical measurements were provided.ResultsEEG during fMRI revealed interictal GSWD in 10 GLUT1DS patients. Group-level analysis showed BOLD signal increases at the premotor cortex and putamen. With respect to GGE, GLUT1DS patients demonstrated increased neuronal activity in the putamen, precuneus, cingulate cortex, SMA and paracentral lobule. Whole-brain correlation analyses disclosed a linear relationship between the GSWD-related BOLD changes and the levels of glycorrhachia at diagnosis over the sensory-motor cortex and superior parietal lobuli.ConclusionThe BOLD dynamics related to GSWD in GLUT1DS are substantially different from typical GGE showing the former an increased activity in the premotor-striatal network and a decrease in the thalamus. The revealed hemodynamic maps might represent imaging biomarkers of GLUT1DS, being potentially useful for a precocious diagnosis of this genetic disorder.

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Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

Vaudano

Olivotto

Ruggieri

et al. 2017

NeuroImage: Clinical

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show abstract

“…Proteins such as hypoxia-inducible factor 1a also affect glucose metabolism by increasing expression of glycolytic enzymes and glucose transporters (24). In patients with glucose transporter 1 deficiency syndrome due to mutation of the SLC2A1 gene, brain glucose hypometabolism has been documented (25). These observations suggest that deoxyglucose uptake is related to expression of genes encoding glucose transporter and glycolytic enzymes.…”

Section: Discussionmentioning

confidence: 62%

Genetic and Environmental Influences on Regional Brain Uptake of ¹⁸F-FDG: A PET Study on Monozygotic and Dizygotic Twins

et al. 2015

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Genetic or environmental influences on cerebral glucose metabolism are unknown. We attempted to reveal these influences in elderly twins by means of 18 F-FDG PET. Methods: 18 F-FDG uptake was studied in 40 monozygotic and 18 dizygotic volunteer twin pairs aged 30 y or over. We also created 18 control pairs by pairing ageand sex-matched genetically unrelated subjects from dizygotic and monozygotic pairs. SUV images of the brain were reconstructed and analyzed by voxel-based statistical analysis with automated region-of-interest setting. The 18 F-FDG uptake in each cerebral lobe was semiquantified by taking a ratio of SUV mean in each region of interest to whole-brain SUV average . We calculated an intraclass correlation coefficient of SUV ratio in each region of interest for monozygotic and dizygotic pairs. By comparing differences in coefficients between monozygotic and dizygotic pairs, genetic and environmental contributions were estimated. Results: The intraclass correlation coefficient in monozygotic pairs was significantly higher than that in dizygotic pairs in the parietal lobes bilaterally (P , 0.001) and in the left temporal lobe (P , 0.05) but was not significantly different in other lobes. Conclusion: The present study indicated that in the right and left parietal lobes and left temporal lobe, cerebral glucose metabolism is influenced more by genetics than by environment, whereas in other brain regions the influence of environment is dominant.

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“…These regional differences might be explained by the regional differences in GLUT1 protein density. These differences in regional distribution of glucose uptake and thus the extent of glucose depletion may explain the different clinical phenotypes of GLUT1DS 3. An EEG performed in a girl with GLUT1DS also showed a marked interhemispheric asymmetry during an acute episode of paroxysmal paresis with confusion, vomiting and aphasia 4.…”

Section: Discussionmentioning

confidence: 92%

“…The localised effect of what is expected to be a general glucose depletion is striking; this same phenomenon is noted in hemiplegic migraine in GLUT1DS, as well as in paroxysmal exercise-induced dyskinesia in GLUT1DS (which may affect one limb) and GLUT1DS-related epilepsy (where most patients suffer from generalised epilepsy, but some have localisation-related epilepsy) 1 2. A study using 18F-fluorodeoxyglucose positron emission tomography in patients with GLUT1DS and epilepsy shed important light on this issue 3. It demonstrated that, although brain hypometabolism is widespread in GLUT1DS, the degree of glucose hypometabolism varies between brain regions.…”

Section: Discussionmentioning

confidence: 99%

Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome

Braakman

Engelen

Nicolai

et al. 2017

J Neurol Neurosurg Psychiatry

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Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency

Cited by 36 publications

References 43 publications

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

Genetic and Environmental Influences on Regional Brain Uptake of ¹⁸F-FDG: A PET Study on Monozygotic and Dizygotic Twins

Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome

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Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency

Cited by 36 publications

References 43 publications

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

Genetic and Environmental Influences on Regional Brain Uptake of 18F-FDG: A PET Study on Monozygotic and Dizygotic Twins

Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome

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Genetic and Environmental Influences on Regional Brain Uptake of ¹⁸F-FDG: A PET Study on Monozygotic and Dizygotic Twins