scholarly journals Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

Brain ◽  
2008 ◽  
Vol 131 (7) ◽  
pp. 1831-1844 ◽  
Author(s):  
A. Suls ◽  
P. Dedeken ◽  
K. Goffin ◽  
H. Van Esch ◽  
P. Dupont ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Exercise Induced ◽  
Glucose Transporter Glut1 ◽  
Transporter Glut1

scholarly journals 053 GLUT-1 deficiency presenting as dopa-responsive dystonia: an atypical phenotype of a rare disease

2019 ◽  
Vol 90 (e7) ◽  
pp. A17.2-A17
Author(s):  
Sophie E Waller ◽  
Jeffrey Blackie ◽  
Himanshu Goel
Keyword(s):  
Ketogenic Diet ◽  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Glut 1 ◽  
Glut1 Deficiency ◽  
History Of ◽  
History Of Epilepsy ◽  
Exercise Induced ◽  
Glucose Transporter Glut1 ◽  
Transporter Glut1

IntroductionThe SLC2A1 gene encodes the glucose transporter GLUT1, responsible for normal glucose transport across the blood-brain barrier. Mutations in this gene have classically been associated with an epileptic encephalopathy referred to as GLUT-1 Deficiency Syndrome, which typically presents with early-onset refractory epilepsy, developmental delay and complex movement disorders.1 2 More recently, SLC2A1 variants have been identified in patients with paroxysmal exercise-induced dyskinesia (PED), with or without a history of epilepsy.3 4 Response to medication is typically poor; however, both seizures and dyskinesia may improve following implementation of a ketogenic diet.5 A single case of levodopa responsiveness has previously been described in a subject with SLC2A1 mutation and PED.5Methods and resultsWe describe a 47-year-old female with mild intellectual disability since childhood but no history of epilepsy, who developed episodic dystonia affecting the lower limbs in her early 20’s. A clinical diagnosis of dopa-responsive dystonia was made following a marked, sustained response to levodopa. There was no significant family history. In her 40’s she developed breakthrough dystonia with exertion and choreiform movements affecting the fingers and face. A subsequent dystonia panel identified a heterozygous variant c.[1199G>T];[=] (p.Arg400Leu) in the SLC2A1 gene. Cerebrospinal fluid glucose concentration was low (2.0 mmol/L). She declined a trial of a ketogenic diet.SLC2A1 variants are associated with PED; however, response to levodopa has not been widely reported.ConclusionIt is becoming increasingly evident that the phenotypic presentations of GLUT1 deficiency are diverse, and SLC2A1 testing should be considered in a broader range of patients.ReferencesWang, D, Kranz-Eble P, De Vivo DK. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 Deficiency Syndrome. Human Mutation 2001;16:224–231.Klepper J, Leiendecker B. GLUT1 deficiency syndrome – 2007 update. Developmental Medicine & Child Neurology 2007;49:707–716.Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, Quinn NP, Weber YG, et al. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord 2009;24(11):1684–1696.Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, endoding the glucose transporter GLUT1. Brain 2008;131:1831–1844.Baschieri F, Batla A, Erro R, Ganos C, Cordivari C, Bhatia KP. Paroxysmal exercise-induced dystonia due to GLUT-1 mutation can be responsive to levodopa: a case report. J Neurol 2014;261:615–616.

Polymorphisms of the glucose transporter (GLUT1) gene are associated with diabetic nephropathy

2001 ◽  
Vol 59 (3) ◽  
pp. 985-989 ◽  
Author(s):  
Andrea D. Hodgkinson ◽  
Beverley A. Millward ◽  
Andrew G. Demaine
Keyword(s):  
Diabetic Nephropathy ◽  
Glucose Transporter ◽  
Glucose Transporter Glut1 ◽  
Transporter Glut1 ◽  
Glut1 Gene

scholarly journals Monosomy-3 Alters the Expression Profile of the Glucose Transporters GLUT1-3 in Uveal Melanoma

2020 ◽  
Vol 21 (24) ◽  
pp. 9345
Author(s):  
Tjorge Maaßen ◽  
Siranush Vardanyan ◽  
Anton Brosig ◽  
Hartmut Merz ◽  
Mahdy Ranjbar ◽  
...  
Keyword(s):  
Uveal Melanoma ◽  
Glucose Transporter ◽  
Glucose Transporters ◽  
Clinical Factors ◽  
Gene Encoding ◽  
Primary Tumors ◽  
High Affinity ◽  
Monosomy 3 ◽  
Glucose Transporter Glut1 ◽  
Transporter Glut1

Monosomy-3 in uveal melanoma (UM) cells increases the risk of fatal metastases. The gene encoding the low-affinity glucose transporter GLUT2 resides on chromosome 3q26.2. Here, we analyzed the expression of the glucose transporters GLUT1, GLUT2, and GLUT3 with regard to the histological and clinical factors by performing immunohistochemistry on the primary tumors of n = 33 UM patients. UMs with monosomy-3 exhibited a 57% lower immunoreactivity for GLUT2 and a 1.8×-fold higher ratio of GLUT1 to total GLUT1-3. The combined levels of GLUT1-3 proteins were reduced in the irradiated but not the non-irradiated tumors with monosomy-3. GLUT3 expression was stronger in the irradiated samples with disomy-3 versus monosomy-3, but the ratio of the GLUT3 isoform to total GLUT1-3 did not differ with regard to the monosomy-3 status in the irradiated or non-irradiated subgroups. Systemic metastases were associated with the presence of monosomy-3 in the primary and circulating tumor cells as well as a higher GLUT1 ratio. Upregulation of the high-affinity glucose transporter GLUT1 possibly as a compensation for the low-affinity isoform GLUT2 may be enhancing the basal glucose uptake in the UM cells with monosomy-3. Prevention of hyperglycemia might, therefore, be a valuable approach to delay the lethal UM metastases.

The Erythrocyte/Brain Glucose Transporter (GLUT1) May Adopt a Two–Channel Transmembrane α/β Structure.

1996 ◽  
Vol 2 (2) ◽  
pp. 27-45
Author(s):  
Philippe Ducarme ◽  
Mehdi Rahman ◽  
Laurence Lins ◽  
Robert Brasseur
Keyword(s):  
Glucose Transporter ◽  
Brain Glucose ◽  
Glucose Transporter Glut1 ◽  
Transporter Glut1
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