Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan

Ito, Yasushi; Takahashi, Satoru; Kagitani‐Shimono, Kuriko; Natsume, Jun; Yanagihara, Keiko; Fujii, Tatsuya; Oguni, Hirokazu

doi:10.1016/j.braindev.2014.11.006

Cited by 46 publications

(62 citation statements)

References 36 publications

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“…For CNS administration, AAV-h SLC2A1 (1.85 × 10 10 vg; total 5 μL/mouse) was injected directly into the bilateral lateral ventricles of the brain at 6 weeks after birth, because patients with GLUT1DS are diagnosed from the infant to childhood period [6], [7], [8]. We could not observe any symptoms for GLUT1 +/− mice at 6 weeks.…”

Section: Methodsmentioning

confidence: 88%

“…GLUT1 interacts with other glucose transporters and mediates glucose transport into neurons [2], [3], [5]. Heterozygous mutation of SLC2A1 leads to impaired hexose transport into the brain, resulting in irreversible neurologic dysfunction [6], [7], [8]. The biochemical hallmark for GLUT1DS is hypoglycorrhachia: cerebrospinal fluid (CSF) glucose level < 40 mg/dL and CSF/blood glucose ratio < 0.45 [8], [9].…”

Section: Introductionmentioning

confidence: 99%

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Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome

Nakamura

Osaka

Muramatsu

et al. 2017

Molecular Genetics and Metabolism Reports

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ObjectiveWe generated an adeno-associated virus (AAV) vector in which the human SLC2A1 gene was expressed under the synapsin I promoter (AAV-hSLC2A1) and examined if AAV-hSLC2A1 administration can lead to functional improvement in GLUT1-deficient mice.MethodsAAV-hSLC2A1 was injected into heterozygous knock-out murine Glut1 (GLUT1+/−) mice intraperitoneally (systemic; 1.85 × 1011 vg/mouse) or intra-cerebroventricularly (local; 1.85 × 1010 vg/mouse). We analyzed GLUT1 mRNA and protein expression, motor function using rota-rod and footprint tests, and blood and cerebrospinal fluid (CSF) glucose levels.ResultsVector-derived RNA was detected in the cerebrum for both injection routes. In the intra-cerebroventricular injection group, exogenous GLUT1 protein was strongly expressed in the cerebral cortex and hippocampus near the injection site. In the intraperitoneal injection group, exogenous GLUT1 protein was mildly expressed in neural cells throughout the entire central nervous system. The motor function test and CSF/blood glucose ratio were significantly improved following intra-cerebroventricular injection.ConclusionsAAV-hSLC2A1 administration produced exogenous GLUT1 in neural cells and improved CSF glucose levels and motor function of heterozygous knock-out murine Glut1 mice.

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Section: Methodsmentioning

confidence: 88%

Section: Introductionmentioning

confidence: 99%

Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome

Nakamura

Osaka

Muramatsu

et al. 2017

Molecular Genetics and Metabolism Reports

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“…associated with a paroxysmal kinesigenic dyskinesia / paroxysmal nonkinesigenic dyskinesia, or others (dysarthria, dysmetria, writer's cramp, total body paralysis, etc.). Authors described the presence of ''paroxysmal movement disorders'' 19 or paroxysmal or persistent dystonia / dyskinesia / ataxia 20,21 to describe the presence of paroxysmal events other than paroxysmal exercise-induced dyskinesia without a precise description and classification of these events. Other terms commonly used are unsteady gait, fluctuating gait disorders, and abnormal gait with dystonic posturing.…”

Section: Uncommon Manifestationsmentioning

confidence: 98%

Atypical Manifestations in Glut1 Deficiency Syndrome

et al. 2016

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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.

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“…Detailed information for 33 patients was obtained with the secondary questionnaire. The results of the analysis of these data were published elsewhere [10]. Data from an additional 13 patients were obtained after publication; thus, the total number of patients increased to 46.…”

Section: Patient Profilesmentioning

confidence: 99%

“…The efficacy of the ketogenic diet on the neurological symptoms of GLUT1DS is well known; however, the degree of efficacy on each of these symptoms has not been thoroughly studied, and its effect on cognitive development is controversial [8,9]. We previously conducted a nationwide survey to characterize Japanese patients with GLUT1DS, the results of which have been published elsewhere [10]. In this report, using the data from the questionnaire we evaluated the efficacy of the KDs for various neurological symptoms, including the developmental/intelligence quotient (DQ/ IQ), to identify the best KD treatment protocol.…”

Section: Introductionmentioning

confidence: 98%