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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10394461 | PMC |
| http://dx.doi.org/10.4103/aian.aian_955_22 | DOI Listing |
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Preliminary observations of glucose metabolism dysregulation in pediatric Huntington's disease.
Front Neurol
August 2025
Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Background: Pediatric Huntington's disease (PHD), a rare and severe form of juvenile-onset Huntington's disease (JOHD), is associated with highly expanded CAG repeats in the gene and a rapidly progressive neurodegenerative course. Recent studies have suggested that glucose metabolism may be impaired in PHD due to reduced expression of glucose transporters in the brain, resembling aspects of GLUT1 Deficiency Syndrome (GLUT1DS).
Methods: We investigated glucose metabolism in two pediatric patients with genetically confirmed PHD (CAG repeats: 76 and 79) referred to our tertiary care center.
Rare Presentations of GLUT1 Deficiency Syndrome: Rare Variants With Cortical Dysplasia in Two Unrelated Families.
Int J Dev Neurosci
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Balikesir University, Faculty of Medicine, Department of Radiology, Balikesir, Türkiye.
Glucose transporter type 1 deficiency syndrome (GLUT1DS) affects all age groups, from infants to adolescents, and involves age-specific symptoms. Nonclassic GLUT1 DS is observed in 10% of cases, in which seizures are not observed, and the condition involves a milder accompanying phenotype and paroxysmal dyskinesias. Cranial imaging findings in cases of GLUT1 DS are variable.
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Neurobiol Dis
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Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032, United States of America; Center for Motor Neuron Biology & Disease, Columbia University Irving Medical Center, New York, NY 10032, United States of America; Colleen Giblin Research Laboratories, Columbia Univers
Proper brain function relies on an adequate supply of energy - mainly glucose - to power neuronal activity. Delivery of this nutrient to the neuropil is mediated by the Glucose Transporter1 (GLUT1) protein. Perturbing glucose supply to the brain is profoundly damaging and exemplified by the neurodevelopmental disorder, GLUT1 deficiency syndrome (GLUT1DS).
View Article and Find Full Text PDFClinical and instrumental gait phenotyping in people with GLUT-1 deficiency syndrome.
Gait Posture
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Department of Brain and Behavioural Sciences, University of Pavia, Pavia 27100, Italy; Movement Analysis Research Section, IRCCS Mondino Foundation, Pavia 27100, Italy. Electronic address:
Objectives: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare neurometabolic disorder caused by mutations in the SLC2A1 gene. GLUT1-DS is characterized by epilepsy, cognitive impairment, movement disorders, and gait abnormalities. In the present study we aimed to characterize gait features of GLUT1-DS by means of gait analysis based on a single inertial measurement unit.
View Article and Find Full Text PDF[Clinical and genetic characteristics of familial cases with Glucose transporter 1 deficiency syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
April 2025
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Objective: To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS).
Methods: A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents.