Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: A systematic review

JAMA Neurology

Volumn 70, Issue 11, 2013, Pages 1440-1444

  Leen, Wilhelmina G ^a   Wevers, Ron A ^b   Kamsteeg, Erik Jan ^b   Scheffer, Hans ^b   Verbeek, Marcel M ^a,b   Willemsen, Michèl A ^a  

^a RADBOUD UNIVERSITY   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; GLUCOSE TRANSPORTER 1; LACTIC ACID;

CEREBROSPINAL FLUID ANALYSIS; CLINICAL EVALUATION; CONCENTRATION (PARAMETERS); COST EFFECTIVENESS ANALYSIS; DIFFERENTIAL DIAGNOSIS; GENE; GENE MUTATION; GLUCOSE BLOOD LEVEL; GLUCOSE METABOLISM; GLUCOSE TRANSPORT; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HUMAN; LUMBAR PUNCTURE; MEDICAL RECORD; METABOLIC DISORDER; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; REFERENCE VALUE; REVIEW; SLC2A1 GENE; SYSTEMATIC REVIEW;

EID: 84888876391     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.3090     Document Type: Review

References (20)

1. Wang D, Pascual JM, Yang H, et al. A mouse model for Glut-1 haploinsufficiency. Hum Mol Genet. 2006;15(7):1169-1179.
2. Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010;133(pt 3):655-670.
3. Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 2008;131(pt 7):1831-1844.
4. Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest. 2008;118(6):2157-2168.
5. Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology. 2010;75(5):432-440.
6. Willemsen MAAP, Verrips A, Verbeek MM, Voit T, Klepper J. Hypoglycorrhachia: a simple clue, simply missed. Ann Neurol. 2001;49(5):685-686.
7. De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991;325(10):703-709.
8. Nickels K, Wirrell E. GLUT1-ous maximus epilepticus: the expanding phenotype of GLUT-1 mutations and epilepsy. Neurology. 2010;75(5):390-391.
9. Nigrovic LE, Kimia AA, Shah SS, Neuman MI. Relationship between cerebrospinal fluid glucose and serum glucose. N Engl J Med. 2012;366(6):576-578.
10. Chow SL, Rooney ZJ, Cleary MA, Clayton PT, Leonard JV. The significance of elevated CSF lactate. Arch Dis Child. 2005;90(11):1188-1189.
11. Klepper J. GLUT1 deficiency syndrome in clinical practice. Epilepsy Res. 2011;100(3):272-277.
12. Verrotti A, D'Egidio C, Agostinelli S, Gobbi G. Glut1 deficiency: when to suspect and how to diagnose? Eur J Paediatr Neurol. 2012;16(1):3-9.
13. Rotstein M, De Vivo DC. Childhood absence epilepsy as a manifestation of GLUT1 deficiency. Ann Neurol. 2010;67(2):272-273; author reply 273.
14. Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol. 2009;66(3):415-419.
15. Leen WG, Willemsen MA, Wevers RA, Verbeek MM. Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice. PLoS One. 2012;7(8):e42745.
16. Klepper J, Diefenbach S, Kohlschütter A, Voit T. Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome. Prostaglandins Leukot Essent Fatty Acids. 2004;70(3):321-327.
17. Yang H, Wang D, Engelstad K, et al. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol. 2011;70(6):996-1005.
18. Pascual JM, Van Heertum RL, Wang D, Engelstad K, De Vivo DC. Imaging the metabolic footprint of Glut1 deficiency on the brain. Ann Neurol. 2002;52(4):458-464.
19. Flore LA, Milunsky JM. Updates in the genetic evaluation of the child with global developmental delay or intellectual disability. Semin Pediatr Neurol. 2012;19(4):173-180.
20. Klepper J. Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome. Neuropediatrics. 2013;44(4):235-236.