Abnormal distribution of GABAA receptors in brain of duchenne muscular dystrophy patients

Muscle and Nerve

Volumn 55, Issue 4, 2017, Pages 591-595

  Suzuki, Yuji ^a,b   Higuchi, Shinya ^b   Aida, Izumi ^b   Nakajima, Takashi ^b   Nakada, Tsutomu ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b National Hospital Organization Niigata National Hospital   (Japan)

Author keywords

123I iomazenil SPECT; brain; cognitive dysfunction; Duchenne muscular dystrophy; GABAA receptor

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; IOMAZENIL I 123; FLUMAZENIL; IOMAZENIL;

ADULT; AGE; ARTICLE; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CT-SPECT SCANNER; DUCHENNE MUSCULAR DYSTROPHY; HUMAN; NEUROPSYCHOLOGICAL TEST; PREFRONTAL CORTEX; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTED TOMOGRAPHY; WECHSLER ADULT INTELLIGENCE SCALE; WECHSLER MEMORY SCALE; WISCONSIN CARD SORTING TEST; YOUNG ADULT; ADOLESCENT; ANALOGS AND DERIVATIVES; BRAIN; CASE CONTROL STUDY; DIAGNOSTIC IMAGING; FEMALE; MALE; METABOLISM; PATHOLOGY; RETROSPECTIVE STUDY;

ADOLESCENT; ADULT; AGE FACTORS; BRAIN; CASE-CONTROL STUDIES; FEMALE; FLUMAZENIL; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; NEUROPSYCHOLOGICAL TESTS; RECEPTORS, GABA-A; RETROSPECTIVE STUDIES; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON; YOUNG ADULT;

EID: 85007595808     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.25383     Document Type: Article

References (28)

1. Lidov HG, Byers TJ, Watkins SC, Kunkel LM. Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 1990;348:725–728.
2. Anderson JL, Head SI, Rae C, Morley JW. Brain function in Duchenne muscle dystrophy. Brain 2002;125:4–13.
3. Piluso G, Mirabella M, Ricci E, Belsito A, Abbondanza C, Servidei S, et al. Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. J Biol Chem 2000;275:15851–15860.
4. Blake DJ, Nawrotzki R, Loh NY, Górecki DC, Davies KE. β-dystrobrevin, a member of the dystrophin-related protein family. Proc Natl Acad Sci USA 1998;95:241–246.
5. Cotton S, Voudouris NJ, Greenwood KM. Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients. Dev Med Child Neurol 2001;43:497–501.
6. Lee JS, Pfund Z, Juhász C, Behen ME, Muzik O, Chugani DC, et al. Altered regional brain glucose metabolism in Duchenne muscular dystrophy: a pet study. Muscle Nerve 2002;26:506–512.
7. Lv SY, Zou QH, Cui JL, Zhao N, Hu J, Long XY, et al. Decreased gray matter concentration and local synchronization of spontaneous activity in the motor cortex in 8. Duchenne muscular dystrophy. Am J Neuroradiol 2011;32:2196–2200.
8. Knusel I, Zuellig RA, Schaub MC, Mastrocola M, Bornhauser B. Altered synaptic clustering of GABAa receptors in mice lacking dystrophin (mdx mice). Eur J Neurosci 1999;11:4457–4462
9. Brünig I, Suter A, Knuesel I, Lüscher B, Fritschy JM. GABAergic terminals are required for postsynaptic clustering of dystrophin but not of GABA(A) receptors and gephyrin. J Neurosci 2002;22:4805–4813.
10. Levi S, Grady RM, Henry MD, Campbell KP, Sanes JR, Craig AM. Dystroglycan is selectively associated with inhibitory GABAergic synapses but is dispensable for their differentiation. J Neurosci 2002;22:4274–4285
11. Kueh SL, Dempster J, Head SI, Morley JW. Reduced postsynaptic GABAa receptor number and enhanced gaboxadol induced change in holding currents in Purkinje cells of the dystrophin-deficient mdx mouse. Neurobiol Dis 2011;43:558–564.
12. Rudolph U, Möhler H. GABAA receptor subtypes: therapeutic potential in Down syndrome, affective disorders, schizophrenia, and autism. Annu Rev Pharmacol Toxicol 2014;54:483–507.
13. Hines RM, Hines DJ, Houston CM, Mukherjee J, Haydon PG, Tretter V, et al. Disrupting the clustering of GABAA receptor α2 subunits in the frontal cortex leads to reduced γ-power andcognitive deficits. Proc Natl Acad Sci USA 2013;110:16628–16633.
14. Tse MT, Piantadosi PT, Floresco SB. Prefrontal cortical gamma-aminobutyric acid transmission and cognitive function: drawing links to schizophrenia from preclinical research. Biol Psychiatry 2015;77:929–939.
15. Nariai T, Inaji M, Tanaka Y, Hiura M, Hosoda C, Ishii K, et al. PET molecular imaging to investigate higher brain dysfunction in patients with neurotrauma. Acta Neurochir Suppl 2013;118:251–254.
16. Beer HF, Blauenstein PA, Hasler PH, Delaloye, B, Riccabona, G, Bangerl I, et al. In vivo and in vitro evaluation of iodine-123-Ro 16-0154: a new imaging agent for SPECT investigations of benzodiazepine receptors. J Nucl Med 1990;31:1007–1014.
17. Berman KF, Ostrem JL, Randolph C, Gold J, Goldberg TE, Coppola R, et al. Physiological activation of a cortical network during performance of the Wisconsin Card Sorting Test: a positron emission tomography study. Neuropsychologia 1995;33:1027–1046.
18. Lie CH, Specht K, Marshall JC, Fink GR. Using fMRI to decompose the neural processes underlying the Wisconsin Card Sorting Test. Neuroimage 2006;30:1038–1049.
19. Taylor PJ, Betts GA, Maroulis S, Gilissen C, Pedersen RL, Mowat DR, et al. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One 2010;5:e8803
20. Wingeier K, Giger E, Strozzi S, Kreis R, Joncourt F, Conrad B, et al. Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy. J Clin Neurosci 2011;18:90–95.
21. Frigeri A, Nicchia GP, Repetto S, Bado M, Minetti C, Svelto M. Altered aquaporin-4 expression in human muscular dystrophies: a common feature? FASEB J 2002;16:1120–1122.
22. Nico B, Tamma R, Annese T, Mangieri D, De Luca A, Corsi P, et al. Glial dystrophin-associated proteins, laminin and agrin, are downregulated in the brain of mdx mouse. Lab Invest 2010;90:1645–1660.
23. Nico B, Paola Nicchia G, Frigeri A, Corsi P, Mangieri D, Ribatti D, et al. Altered blood-brain barrier development in dystrophic MDX mice. Neuroscience 2004;125:921–935.
24. Waite A, Brown SC, Blake DJ. The dystrophin-glycoprotein complex in brain development and disease. Trends Neurosci 2012;35:487–496.
25. Nicchia GP, Rossi A, Nudel U, Svelto M, Frigeri A. Dystrophin-dependent and -independent AQP4 pools are expressed in the mouse brain. Glia 2008;56:869–876.
26. Daoud F, Candelario-Martínez A, Billard JM, Avital A, Khelfaoui M, Rozenvald Y, et al. Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions. PLoS One 2008;4:e6574
27. Igarashi H, Suzuki Y, Kwee IL, Nakada T. Water influx into cerebrospinal fluid is significantly reduced in senile plaque bearing transgenic mice, supporting beta-amyloid clearance hypothesis of Alzheimer disease. Neurol Res 2014;36:1094–1098.
28. Nakada T. Review: Virchow–Robin space and aquaporin-4: new insights on an old friend. Croatian Med J 2014;55:328–336.