GABAB-ergic motor cortex dysfunction in SSADH deficiency

Neurology

Volumn 79, Issue 1, 2012, Pages 47-54

  Reis, Janine ^a,b   Cohen, Leonardo G ^a   Pearl, Phillip L ^c   Fritsch, Brita ^b   Jung, Nikolai H ^b   Dustin, Irene ^a   Theodore, William H ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b UNIVERSITY OF FREIBURG   (Germany)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID B RECEPTOR; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; 4 AMINOBUTYRIC ACID RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; BRAIN DYSFUNCTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; GABAERGIC SYSTEM; HUMAN; MALE; PRIMARY MOTOR CORTEX; PRIMARY MOTOR CORTEX DYSFUNCTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECEPTOR DOWN REGULATION; SCHOOL CHILD; SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; TRANSCRANIAL MAGNETIC STIMULATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; METABOLISM; METHODOLOGY; MIDDLE AGED; MOTOR CORTEX; PATHOLOGY; PATHOPHYSIOLOGY;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; FEMALE; GABAERGIC NEURONS; HUMANS; MALE; MIDDLE AGED; MOTOR CORTEX; RECEPTORS, GABA-B; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE; TRANSCRANIAL MAGNETIC STIMULATION; YOUNG ADULT;

EID: 84863596113     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31825dcf71     Document Type: Article

References (40)

1. Akaboshi S, Hogema BM, Novelletto A, et al. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat 2003;22:442-450.
2. Pearl PL, Novotny EJ, Acosta MT, et al. Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol 2003;54(suppl 6):S73-S80.
3. Pearl PL, Shamim S, Theodore WH, et al. Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Sleep 2009;32:1645-1648.
4. Pearl PL, Gibson KM, Cortez MA, et al. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis 2009;32:343-352.
5. Benavides J, Rumigny JF, Bourguignon JJ, et al. High affinity binding sites for gamma-hydroxybutyric acid in rat brain. Life Sci 1982;30:953-961.
6. Snead OC 3rd, Liu CC. Gamma-hydroxybutyric acid binding sites in rat and human brain synaptosomal membranes. Biochem Pharmacol 1984;33:2587-2590.
7. Lingenhoehl K, Brom R, Heid J, et al. Gammahydroxybutyrate is a weak agonist at recombinant GABA(B) receptors. Neuropharmacology 1999;38:1667-1673.
8. Murphy TC, Poppe C, Porter JE, et al. 4-Hydroxy-trans-2-nonenoic acid is a gamma-hydroxybutyrate receptor ligand in the cerebral cortex and hippocampus. J Neurochem 2004;89: 1462-1470.
9. Carter LP, Koek W, France CP. Behavioral analyses of GHB: receptor mechanisms. Pharmacol Ther 2009;121: 100-114.
10. Serra M, Sanna E, Foddi C, et al. Failure of gammahydroxybutyrate to alter the function of the GABAA receptor complex in the rat cerebral cortex. Psychopharmacology 1991;104:351-355.
11. Buzzi A, Wu Y, Frantseva MV, et al. Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. Brain Res 2006;1090:15-22.
12. Vardya I, Drasbek KR, Gibson KM, Jensen K. Plasticity of postsynaptic, but not presynaptic, GABAB receptors in SSADH deficient mice Exp Neurol 2011;225:114-122.
13. Wu Y, Buzzi A, Frantseva M, et al. Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms. Ann Neurol 2006;59:42-52.
14. Pearl PL, Gibson KM, Quezado Z, et al. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology 2009;73:423-429.
15. Gibson KM, Aramaki S, Sweetman L, et al. Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. Biomed Environ Mass Spectrom 1990;19:89-93.
16. Gibson KM, Lee CF, Chambliss KL, et al. 4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta 1991;196:219-221.
17. Oldfield RC. The assessment and analysis of handedness: the Edinburgh inventory. Neuropsychologia 1971;9:97-113.
18. DiLazzaro V, Oliviero A, Profice P, et al. Comparison of descending volleys evoked by transcranial magnetic and electric stimulation in conscious humans. Electroencephalogr Clin Neurophysiol 1998;109:397-401.
19. Kujirai T, Caramia MD, Rothwell JC, et al. Corticocortical inhibition in human motor cortex. J Physiol 1993;471: 501-519.
20. Nakamura H, Kitagawa H, Kawaguchi Y, Tsuji H. Intracortical facilitation and inhibition after transcranial magnetic stimulation in conscious humans. J Physiol 1997; 498:817-823.
21. Garvey MA, Gilbert DL. Transcranial magnetic stimulation in children. Eur J Paediatr Neurol 2004;8:7-19.
22. McDonnell MN, Orekhov Y, Ziemann U. The role of GABA(B) receptors in intracortical inhibition in the human motor cortex. Exp Brain Res 2006;173:86-93.
23. Reis J, Swayne OB, Vandermeeren Y, et al. Contribution of transcranial magnetic stimulation to the understanding of cortical mechanisms involved in motor control. J Physiol 2008;586:325-351.
24. Heinen F, Glocker FX, Fietzek U, et al. Absence of transcallosal inhibition following focal magnetic stimulation in preschool children. Ann Neurol 1998;43:608-612.
25. Chen R, Curra A. Measures of cortical inhibition in health and disease. Suppl Clin Neurophysiol 2004;57:691-701.
26. Fuhr P, Agostino R, Hallett M. Spinal motor neuron excitability during the silent period after cortical stimulation. Electroencephalogr Clin Neurophysiol 1991;81:257-262.
27. Tergau F, Wanschura V, Canelo M, et al. Complete suppression of voluntary motor drive during the silent period after transcranial magnetic stimulation. Exp Brain Res 1999;124:447-454.
28. Orth M, Rothwell JC. The cortical silent period: intrinsic variability and relation to the waveform of the transcranial magnetic stimulation pulse. Clin Neurophysiol 2004;115: 1076-1082.
29. Werhahn KJ, Kunesch E, Noachtar S, et al. Differential effects on motorcortical inhibition induced by blockade of GABA uptake in humans. J Physiol 1999;517:591-597.
30. Siebner HR, Dressnandt J, Auer C, Conrad B. Continuous intrathecal baclofen infusions induced a marked increase of the transcranially evoked silent period in a patient with generalized dystonia. Muscle Nerve 1998;21:1209-1212.
31. Drasbek KR, Vardya I, Delenclos M, et al. SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex. J Inherit Metab Dis 2008;31:662-668.
32. Di Lazzaro V, Pilato F, Dileone M, et al. GABAA receptor subtype specific enhancement of inhibition in human motor cortex. J Physiol 2006;575:721-726.
33. Ziemann U. Pharmacology of TMS. Suppl Clin Neurophysiol 2003;56:226-231.
34. Fedi M, Berkovic SF, Marini C, et al. A GABAA receptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding. Neuroimage 2006;32:995-1000.
35. Fedi M, Berkovic SF, Macdonell RA, et al. Intracortical hyperexcitability in humans with a GABAA receptor mutation. Cereb Cortex 2008;18:664-669.
36. Ziemann U, Chen R, Cohen LG, Hallett M. Dextromethorphan decreases the excitability of the human motor cortex. Neurology 1998;51:1320-1324.
37. Schwenkreis P, Witscher K, Janssen F, et al. Influence of the N-methyl-D-aspartate antagonist memantine on human motor cortex excitability. Neurosci Lett 1999;270: 137-140.
38. Reis J, Tergau F, Hamer HM, et al. Topiramate selectively decreases intracortical excitability in human motor cortex. Epilepsia 2002;43:1149-1156.
39. Ben-Ari Y. Excitatory actions of GABA during development: the nature of the nurture. Nat Rev Neurosci 2002;3: 728-739.
40. Sandbrink F, Syed NA, Fujii MD, et al. Motor cortex excitability in stiff-person syndrome. Brain 2000;123:2231-2239.