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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome
Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1‐DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1‐DS with predominant movement disord...
| Autores principales: | , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601183/ https://www.ncbi.nlm.nih.gov/pubmed/28556183 http://dx.doi.org/10.1002/ana.24970 |
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| author | Gras, Domitille Cousin, Christelle Kappeler, Caroline Fung, Cheuk‐Wing Auvin, Stéphane Essid, Nouha Chung, Brian Hy Da Costa, Lydie Hainque, Elodie Luton, Marie‐Pierre Petit, Vincent Vuillaumier‐Barrot, Sandrine Boespflug‐Tanguy, Odile Roze, Emmanuel Mochel, Fanny |
| author_facet | Gras, Domitille Cousin, Christelle Kappeler, Caroline Fung, Cheuk‐Wing Auvin, Stéphane Essid, Nouha Chung, Brian Hy Da Costa, Lydie Hainque, Elodie Luton, Marie‐Pierre Petit, Vincent Vuillaumier‐Barrot, Sandrine Boespflug‐Tanguy, Odile Roze, Emmanuel Mochel, Fanny |
| author_sort | Gras, Domitille |
| collection | PubMed |
| description | Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1‐DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1‐DS with predominant movement disorders, 18 patients with movement disorders attributed to other genetic defects, and 346 healthy controls. We detected significantly reduced GLUT1 expression only on red blood cells from patients with GLUT1‐DS (23 patients; 78%), including patients with inconclusive genetic analysis. This test opens perspectives for the screening of GLUT1‐DS in children and adults with cognitive impairment, movement disorder, or epilepsy. Ann Neurol 2017;82:133–138 |
| format | Online Article Text |
| id | pubmed-5601183 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-56011832017-10-03 A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome Gras, Domitille Cousin, Christelle Kappeler, Caroline Fung, Cheuk‐Wing Auvin, Stéphane Essid, Nouha Chung, Brian Hy Da Costa, Lydie Hainque, Elodie Luton, Marie‐Pierre Petit, Vincent Vuillaumier‐Barrot, Sandrine Boespflug‐Tanguy, Odile Roze, Emmanuel Mochel, Fanny Ann Neurol Brief Communications Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1‐DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1‐DS with predominant movement disorders, 18 patients with movement disorders attributed to other genetic defects, and 346 healthy controls. We detected significantly reduced GLUT1 expression only on red blood cells from patients with GLUT1‐DS (23 patients; 78%), including patients with inconclusive genetic analysis. This test opens perspectives for the screening of GLUT1‐DS in children and adults with cognitive impairment, movement disorder, or epilepsy. Ann Neurol 2017;82:133–138 John Wiley and Sons Inc. 2017-07-25 2017-07 /pmc/articles/PMC5601183/ /pubmed/28556183 http://dx.doi.org/10.1002/ana.24970 Text en © 2017 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
| spellingShingle | Brief Communications Gras, Domitille Cousin, Christelle Kappeler, Caroline Fung, Cheuk‐Wing Auvin, Stéphane Essid, Nouha Chung, Brian Hy Da Costa, Lydie Hainque, Elodie Luton, Marie‐Pierre Petit, Vincent Vuillaumier‐Barrot, Sandrine Boespflug‐Tanguy, Odile Roze, Emmanuel Mochel, Fanny A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome |
| title | A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome |
| title_full | A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome |
| title_fullStr | A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome |
| title_full_unstemmed | A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome |
| title_short | A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome |
| title_sort | simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome |
| topic | Brief Communications |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5601183/ https://www.ncbi.nlm.nih.gov/pubmed/28556183 http://dx.doi.org/10.1002/ana.24970 |
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