Visual evoked potentials detect cortical processing deficits in Rett syndrome

Annals of Neurology

Volumn 78, Issue 5, 2015, Pages 775-786

  LeBlanc, Jocelyn J ^a,b   DeGregorio, Geneva ^a   Centofante, Eleonora ^a   Vogel Farley, Vanessa K ^a   Barnes, Katherine ^a   Kaufmann, Walter E ^a,b   Fagiolini, Michela ^a,b   Nelson, Charles A ^a,b,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c HARVARD GRADUATE SCHOOL OF EDUCATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ETIRACETAM; METHYL CPG BINDING PROTEIN 2; BIOLOGICAL MARKER; MECP2 PROTEIN, HUMAN; MECP2 PROTEIN, MOUSE;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ANTICONVULSANT THERAPY; ARTICLE; BRAIN FUNCTION; CLINICAL ARTICLE; CONTROLLED STUDY; EVOKED VISUAL RESPONSE; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GIRL; HETEROZYGOTE; HUMAN; LATENT PERIOD; MALE; MOUSE; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; RETT SYNDROME; SEIZURE; VISUAL ACUITY; AGING; ANIMAL; C57BL MOUSE; CHILD; DISEASE COURSE; ELECTROENCEPHALOGRAPHY; GENETICS; INFANT; MUTATION; PATHOPHYSIOLOGY; PHOTOSTIMULATION; PHYSIOLOGY; PRESCHOOL CHILD; VISUAL CORTEX;

AGING; ANIMALS; BIOMARKERS; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; ELECTROENCEPHALOGRAPHY; EVOKED POTENTIALS, VISUAL; FEMALE; HUMANS; INFANT; METHYL-CPG-BINDING PROTEIN 2; MICE; MICE, INBRED C57BL; MUTATION; PHOTIC STIMULATION; RETT SYNDROME; VISUAL ACUITY; VISUAL CORTEX;

EID: 84945495201     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24513     Document Type: Article

References (43)

1. Amir RE, Van den Veyver IB, Wan M, et al., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 185-188.
2. Lyst MJ, Bird A,. Rett syndrome: a complex disorder with simple roots. Nat Rev Genet 2015; 16: 261-274.
3. Pohodich AE, Zoghbi HY,. Rett syndrome: disruption of epigenetic control of postnatal neurological functions. Hum Mol Genet 2015;ddv217.
4. Hagberg B, Witt-Engerström I,. Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet 1986; 24: 47-59.
5. Percy A,. Rett syndrome: coming to terms with treatment. Adv Neurosci 2014; 2014: 1-20.
6. Kron M, Howell CJ, Adams IT, et al., Brain activity mapping in Mecp2 mutant mice reveals functional deficits in forebrain circuits, including key nodes in the default mode network, that are reversed with ketamine treatment. J Neurosci 2012; 32: 13860-13872.
7. Della Sala G, Pizzorusso T,. Synaptic plasticity and signaling in Rett syndrome. Dev Neurobiol 2014; 74: 178-196.
8. Durand S, Patrizi A, Quast KB, et al., NMDA receptor regulation prevents regression of visual cortical function in the absence of Mecp2. Neuron 2012; 76: 1078-1090.
9. Odom JV, Bach M, Brigell M, et al., ISCEV standard for clinical visual evoked potentials (2009 update). Doc Ophthalmol 2010; 120: 111-119.
10. Lenassi E, Likar K, Stirn-Kranjc B, Brecelj J,. VEP maturation and visual acuity in infants and preschool children. Doc Ophthalmol 2008; 117: 111-120.
11. Von Tetzchner S, Jacobsen KH, Smith L, et al., Vision, cognition and developmental characteristics of girls and women with Rett syndrome. Dev Med Child Neurol 1996; 38: 212-225.
12. Fontanesi J, Haas RH,. Cognitive profile of Rett syndrome. J Child Neurol 1988; 3 (suppl): S20-S24.
13. Neul JL, Kaufmann WE, Glaze DG, et al., Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010; 68: 944-950.
14. Verma NP, Nigro MA, Hart ZH,. Rett syndrome-a gray matter disease? Electrophysiological evidence. Electroencephalogr Clin Neurophysiol 1987; 67: 327-329.
15. Kálmánchey R,. Evoked potentials in the Rett syndrome. Brain Dev 1990; 12: 73-76.
16. Bader GG, Witt-Engerström I, Hagberg B,. Neurophysiological findings in the Rett syndrome, II: Visual and auditory brainstem, middle and late evoked responses. Brain Dev 1989; 11: 110-114.
17. Saunders KJ, McCulloch DL, Kerr AM,. Visual function in Rett syndrome. Dev Med Child Neurol 1995; 37: 496-504.
18. Guy J, Hendrich B, Holmes M, et al., A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 2001; 27: 322-326.
19. Guy J, Gan J, Selfridge J, et al., Reversal of neurological defects in a mouse model of Rett syndrome. Science 2007; 315: 1143-1148.
20. Neul JL, Fang P, Barrish J, et al., Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 2008; 70: 1313-1321.
21. Cuddapah VA, Pillai RB, Shekar KV, et al., Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J Med Genet 2014; 51: 152-158.
22. Iyer KK, Bradley AP, Wilson SJ,. Conducting shorter VEP tests to estimate visual acuity via assessment of SNR. Doc Ophthalmol 2013; 126: 21-28.
23. Lenassi E, Likar K, Stirn-Kranjc B, Brecelj J,. VEP maturation and visual acuity in infants and preschool children. Doc Ophthalmol 2008; 117: 111-120.
24. Glaze DG, Percy AK, Skinner S, et al., Epilepsy and the natural history of Rett syndrome. Neurology 2010; 74: 909-912.
25. Verrotti A, Manco R, Matricardi S, et al., Antiepileptic drugs and visual function. Pediatr Neurol 2007; 36: 353-360.
26. Yamanouchi H, Kaga M, Arima M,. Abnormal cortical excitability in Rett syndrome. Pediatr Neurol 1993; 9: 202-206.
27. Chapleau CA, Lane J, Pozzo-Miller L, Percy AK,. Rett syndrome: a model of genetic neurodevelopmental disorders. InTech Open Access Publisher, 2013; 223-241.
28. Marín O,. Interneuron dysfunction in psychiatric disorders. Nat Rev Neurosci 2012; 13: 107-120.
29. Yizhar O, Fenno LE, Prigge M, et al., Neocortical excitation/inhibition balance in information processing and social dysfunction. Nature 2011; 477: 171-178.
30. Dani VS, Chang Q, Maffei A, et al., Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A 2005; 102: 12560-12565.
31. Chapleau CA, Calfa, Gaston D, et al., Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. Neurobiol Dis 2009; 35: 219-233.
32. Armstrong DD, Dunn K, Antalffy B,. Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with Trisomy 21. J Neuropathol Exp Neurol 1998; 57: 1013-1017.
33. Kaufmann WE, Macdonald SM, Altamura CR,. Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett syndrome. Cereb Cortex 2000; 10: 992-1004.
34. Li W, Pozzo-Miller L,. BDNF deregulation in Rett syndrome. Neuropharmacology 2014; 76 (pt C): 737-746.
35. Zhou Z, Hong EJ, Cohen S, et al., Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation. Neuron 2006; 52: 255-269.
36. Heimel JA, Saiepour MH, Chakravarthy S, et al., Contrast gain control and cortical TrkB signaling shape visual acuity. Nat Neurosci 2010; 13: 642-648.
37. Huang ZJ, Kirkwood A, Pizzorusso T, et al., BDNF regulates the maturation of inhibition and the critical period of plasticity in mouse visual cortex. Cell 1999; 98: 739-755.
38. Cancedda L, Putignano E, Sale A, et al., Acceleration of visual system development by environmental enrichment. J Neurosci 2004; 24: 4840-4848.
39. Sale A, Maya Vetencourt JF, Medini P, et al., Environmental enrichment in adulthood promotes amblyopia recovery through a reduction of intracortical inhibition. Nat Neurosci 2007; 10: 679-681.
40. Goffin D, Brodkin ES, Blendy JA, et al., Cellular origins of auditory event-related potential deficits in Rett syndrome. Nat Neurosci 2014; 17: 804-806.
41. Liao W, Gandal MJ, Ehrlichman RS, et al., MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder. Neurobiol Dis 2012; 46: 88-92.
42. Stach BA, Stoner WR, Smith SL, Jerger JF,. Auditory evoked potentials in Rett syndrome. J Am Acad Audiol 1994; 5: 226-230.
43. Stauder JEA, Smeets EEJ, van Mil SGM, Curfs LGM,. The development of visual- and auditory processing in Rett syndrome: an ERP study. Brain Dev 2006; 28: 487-494.