Rett syndrome: A disorder affecting early brain growth

Annals of Neurology

Volumn 42, Issue 1, 1997, Pages 3-10

  Naidu, S ^a  

^a KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROTRANSMITTER;

BRAIN GROWTH; DEMENTIA; ELECTROENCEPHALOGRAM; MENTAL DEFICIENCY; MICROCEPHALY; MOTOR DYSFUNCTION; NEUROPATHOLOGY; NEUROTRANSMISSION; PHENOTYPE; PRIORITY JOURNAL; QUALITY OF LIFE; RETT SYNDROME; REVIEW; SEX DIFFERENCE; X CHROMOSOME LINKAGE;

EID: 0030744335     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410420104     Document Type: Review

References (100)

1. 1 Rett A. Euber eine eiggenartiges hirnatrophisches Syndrome bei hyperammonamie iim Kindesalter. Wien Med Wochenschr 1966 ; 116: 723–728
2. 2 Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett syndrome—report of 35 cases. Ann Neurol 1983 ; 14: 471–479
3. 3 Naidu S, Murphy M, Moser HW, Rett A. Rett syndrome: natural history in 70 cases. Am J Medenet 1986 ; 24: 61–72
4. 4 The Rett Syndrome Diagnostic Criteria Work Group. Diagnostic criteria for Rett syndrome. Ann Neurol 1988 ; 23: 425–428
5. 5 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
6. 6 Schultz RJ, Glaze DG, Motil KJ, et al. The pattern of growth failure in Rett syndrome. Am J Dis Child 1993 ; 147: 633–637
7. 7 Naidu S, Hyman S, Harris EL, et al. Rett syndrome studies of natural history and search for a genetic marker. Neuropediatrics 1995 ; 26: 63–66
8. 8 Bauman ML, Kemper TL, Arin DM. Microscopic observations of the brain in Rett syndrome. Neuropediatrics 1995 ; 26: 105–108
9. 9 Kerr AM, Mitchell JM, Robertson PE. Short fourth toes in Rett syndrome: a biological indicator. Neuropediatrics 1995 ; 26: 72–74
10. 10 Stenbom Y Witt‐Engerström I, Hagberg B. Gross motor disability and head growth in Rett syndrome. Neuropediatrics 1995 ; 26: 85–86
11. 11 Trevathan E, Naidu S. The clinical recognition and differential diagnosis of Rett syndrome. J Child Neurol 1988 ; 3: S6–S16
12. 12 Niedermeyer E, Naidu S. Further EEG observations in children with the Rett syndrome. Brain Dev 1990 ; 12: 53–54
13. 13 Badr G, Witt‐Engerstrom I, Hagberg B. Neurophysiological findings in Rett syndrome. II. Visual and auditory brainstem, middle and late evoked responses. Brain Dev 1989 ; 11: 110–114
14. 14 Pelson RO, Budden SS. Auditory brainstem response findings in Rett syndrome. Brain Dev 1987 ; 9: 514–516
15. 15 Haas RH, Love S. Peripheral nerve findings in Rett syndrome. J Child Neurol 1988 ; 3 (suppl): S25–S30
16. 16 Coker SB, Melnyk AR. Rett syndrome and mitochondrial enzyme deficiencies. J Child Neurol 1990 ; 6: 164–166
17. 17 Naidu S, Chatterjee S, Murphy M, et al. Rett syndrome: new observations. Brain Dev 1987 ; 9: 525–528
18. 18 Naidu S, Hyman S, Piazza K, et al. The Rett syndrome: progress report on studies at the Kennedy Institute. Brain Dev 1990 ; 12: 5–7
19. 19 Glaze DG. Commentary: the challenge of Rett syndrome. Neuropediatrics 1995 ; 26: 78–80
20. 20 Sekul EA, Moak JP, Schultz RJ, et al. Electrocardiographic findings in Rett syndrome: explanation for sudden death? J Pediatr 1994 ; 125: 80–82
21. 21 Kozinetz CA, Skender ML, MacNaughton N, et al. Epidemiology of Rett syndrome: a population‐based registry. Pediatrics 1993 ; 91: 445–450
22. 22 Coleman M. Is classical Rett syndrome ever present in males? Brain Dev 1990 ; 12: 31–32
23. 23 Philippart M. Rett syndrome in males. Brain Dev 1990 ; 12: 33–36
24. 24 Christen HJ, Hanefeld F. Male Rett variant. Neuropediatrics 1995 ; 26: 81–82
25. 25 Hagberg B, Skjeldal O. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 1994 ; 11: 5–11
26. 26 Naidu S, Kitt CA, Wong DF, et al. Research on Rett syndrome: strategy and preliminary results. J Child Neurol 1988 ; 3: 578–586
27. 27 Witt‐Engerström I, Forslund M. Mother and daughter with Rett syndrome. Dev Med Child Neurol 1992 ; 34: 1022–1023
28. 28 Comings DE. The genetics of Rett syndrome: the consequences of a disorder where every case is a new mutation. Am J Med Genet 1986 ; 24: 383–388
29. 29 Murphy M, Naidu S, Moser HW. Rett syndrome: observational study of 33 families. Am J Med Genet 1986 ; 24: 73–76
30. 30 Zoghbi HY, Ledbetter DH, Schultz R, et al. A de novo X‐3 translocation in Rett syndrome. Am J Med Genet 1990 ; 35: 148–151
31. 31 Journel H, Melki J, Turleau C, et al. Rett phenotype with X‐autosome translocation: possible mapping to the short arm of chromosome X. Am J Med Genet 1990 ; 35: 142–147
32. 32 Anvret M, Wahlström J, Skogsberg P, Hagberg B. Segregation analysis of the X chromosome in a family with Rett syndrome in two generations. Am J Med Genet 1990 ; 37: 31–35
33. 33 Webb T, Watkiss E, Woods C. Neither uniparental disomy nor skewed X‐inactivation explains Rett syndrome. Clin Genet 1993 ; 44: 236–240
34. 34 Rivkin MJ, Ye Z, Mannheim GB, Darras BT. A search for X‐chromosome uniparental disomy and DNA rearrangements in the Rett syndrome. Brain Dev 1992 ; 14: 273–275
35. 35 Benedetti L, Munich A, Melki J, et al. Parental origin of the X‐chromosomes in Rett syndrome. Am J Med Genet 1992 ; 44: 121–123 (Letter)
36. 36 Zoghbi HY, Percy AK, Schultz RJ, Fill C. Patterns of X‐chromosome inactivation in the Rett syndrome. Brain Dev 1990 ; 12: 131–135
37. 37 Migeon BR, Dunn MA, Thomas G, et al. Studies of X‐inactivation and isodisomy in twins provide further evidence that the X‐chromosome is not involved in Rett syndrome. Am J Hum Genet 1995 ; 56: 647–653
38. 38 Thomas GH. High male: female ratio of germ‐line mutations: an alternative explanation for postulated gestational lethality in males in X‐linked dominant disorders. Am J Hum Genet 1996 ; 58: 1364–1368
39. 39 Haas RH, Nasirian F, Hua X, et al. Oxidative metabolism in Rett syndrome: biochemical and molecular studies. Neuropediatrics 1995 ; 26: 95–99
40. 40 Jellinger K, Armstrong D, Zoghbi HY, Percy AK. Neuropathology of Rett syndrome. Acta Neuropathol 1988 ; 76: 142–158
41. 41 Armstrong D. The neuropathology of Rett syndrome: overview. Neuroped 1995 ; 26: 100–102
42. 42 Subramaniam B, Naidu S, Reiss AL. Neuroanatomy in Rett syndrome: cerebral cortex and posterior fossa. Neurology 1997 ; 48: 399–407
43. 43 Bauman ML, Kemper TL, Arin DM. Pervasive neuroanatomic abnormalities of the brain in three cases of Rett syndrome. Neurology 1995 ; 45: 1581–1586
44. 44 Armstrong D, Dunn JK, Antalffy B, Trivedi R. Selective dendritic alterations in the cortex of Rett syndrome. J Neuropathol Exp Neurol 1995 ; 54: 195–201
45. 45 Belichenko PV, Hagberg B, Dahlstrom A. Morphological study of neocortical areas in Rett syndrome. Acta Neuropathol 1997 ; 93: 50–61
46. 46 Friede RL. Developmental neuropathology. Berlin: Springer‐Verlag, 1989: 372–373
47. 47 Rakic P, Sidman RL. Histogenesis of cortical layers in human cerebellum particularly the lamina dissecans. J Comp Neurol 1970 ; 139: 473–500
48. 48 Kitt CA, Troncoso JC, Price DL, et al. Pathological changes in substantia nigra and basal forebrain neurons in Rett syndrome. Ann Neurol 1990 ; 28: 416
49. 49 Kitt CA, Wilcox BJ. Preliminary evidence for neurodegenerative changes in the substantia nigra of Rett syndrome. Neuropediatrics 1995 ; 26: 114–118
50. 50 Uvebrant P, Bjure J, Sixt R, et al. In: Hagberg B, ed. Rett syndrome: clinical and biological aspects. London: MacKeith Press, 1993: 80–85
51. 51 Yoshikawa H, Fueki N, Suzuki H, et al. Cerebral blood flow and oxygen metabolism in Rett syndrome. J Child Neurol 1991 ; 6: 233–242
52. 52 Oldfors A, Sourander P, Armstrong D, et al. Rett syndrome: cerebellar pathology. Pediatr Neurol 1990 ; 6: 310–314
53. 53 Oldfors A, Hagberg B, Nordgren H, et al. Rett syndrome: spinal cord neuropathology. Pediatr Neurol 1988 ; 4: 172–174
54. 54 Kaufmann WE, Naidu S, Budden S. Abnormal expression of microtubule‐associated protein 2 (MAP‐2) in neocortex in Rett syndrome. Neuropediatrics 1995 ; 26: 109–113
55. 55 Matus A. Microtubule‐associated proteins. Annu Rev Neurosci 1988 ; 11: 29–44
56. 56 Chamak B, Fellous A, Glowinski J, Prochiantz A. MAP‐2 expression and neuritic outgrowth and branching are coregulated through region‐specific neuro‐astroglial interactions. J Neurosci 1987 ; 7: 3163–3170
57. 57 Kaufmann WE, Hohmann CF, Israel JJ, et al. Microtubule‐associated protein 2 is abnormally expressed in the neocortex of Rett syndrome subjects and in a related animal model. Ann Neurol 1995 ; 38: 500
58. 58 Kaufmann WE, Naidu S. Is Rett syndrome a subplate disease? Soc Neurosci Abstr 1995 ; 21: 735
59. 59 Allendoerfer KL, Shatz CJ. The subplate, a transient neocortical structure: its role in the development of connections between thalamus and cortex. Annu Rev Neurosci 1994 ; 17: 185–218
60. 60 Van der Zee EA, Douma BRK, Bohus B, Luiten PGM. Passive avoidance training induces enhanced levels of immunoreactivity for muscarinic acetylcholine receptor and coexpressed PKCγ and MAP‐2 in rat cortical neurons. Cerebr Cort 1994 ; 4: 376–390
61. 61 Woolf NJ, Young SL, Johnson GVW, Fanselow MS. Pavlovian conditioning alters cortical microtubule‐associated protein 2. Neuro Rep 1994 ; 5: 1045–1048
62. 62 Johnson GVM, Jope RS. The role of microtubule‐associated protein‐2 (MAP‐2) in neuronal growth, plasticity, and degeneration. J Neurosci Res 1992 ; 33: 505–512
63. 63 Woolf NJ. Cholinoreceptive cells in rat cerebral cortex: somatodendritic immunoreactivity for muscarinic receptor and cytoskeletal proteins. J Chem Neuroanat 1993 ; 6: 375–390
64. 64 Nomura Y, Segawa M. Anatomy of Rett syndrome. In: Opitz JM, Reynolds JF, eds. The Rett syndrome. New York: Alan R. Liss, 1986: 289–303
65. 65 Zoghbi HY, Percy AK, Glaze DG, et al. Reduction of biogenic amine levels in the Rett syndrome. N Engl J Med 1985 ; 313: 921–924
66. 66 Perry TL, Dunn HG, Ho HH, Crichton JU. Cerebrospinal fluid values for monoamine metabolites, gamma‐aminobutyric acid, and other amino compounds in Rett syndrome. J Pediatr 1988 ; 112: 234–238
67. 67 Wenk GL, O'Leary CB, Nemeroff G, et al. Neurochemical alterations in Rett syndrome. Dev Brain Res 1993 ; 74: 67–72
68. 68 Wenk GL. Alterations in dopaminergic function in Rett syndrome. Neuropediatrics 1995 ; 26: 123–125
69. 69 Riederer P, Brucke T, Sofic E, et al. Neurochemical aspects of the Rett syndrome. Brain Dev 1985 ; 7: 351–360
70. 70 Lekman A, Witt‐Engerstrom I, Gottfries J, et al. Rett syndrome: biogenic amines and metabolites in postmortem brain. Pediatr Neurol 1989 ; 5: 357–362
71. 71 Blue ME, Hohmann CF, Wallace SA, et al. Excitatory and inhibitory neurotransmitter receptor expression is altered in Rett syndrome and in a mouse model for Rett syndrome. Soc Neurosci 1996 ; 22: 460 (Abstract)
72. 72 Ruberg N, Mayo W, Brice A, et al. Choline acetyltransferase activity and [ 3 H] vesamicol binding in the temporal cortex of patients with Alzheimer's disease, Parkinson's disease, and rats with basal forebrain lesions. Neuroscience 1990 ; 35: 327–333
73. 73 Wenk GL, Mobley SL. Choline acetyltransferase activity and vesamicol binding in RS and in rats with nucleus basalis lesions. Neuroscience (in press)
74. 74 Wong DF, Gjedde A, Wagner HN Jr. Quantification of neuroreceptors in living human brain, Part I. J Cereb Blood Flow Metab 1986a ; 6: 137–146
75. 75 Marenco S, Rousset O, Ma Y, et al. Partial volume correction of kinetic curves in human dopamine transporter PET imaging. J Nucl Med 1995 ; 36: 254
76. 76 Yokoi F, Galgon R, Yaster M, Wong DF. Effect of methohexital and nitrous oxide on [ 3 H]‐WIN 35,428 binding in mouse brain. J Nucl Med 1994 ; 35: 198
77. 77 Odano I, Shaya E, Folio T, et al. The effect of nitrous oxide and methohexital anesthesia on D 2 ‐dopamine receptor binding of [ 3 H]N‐methylspierone. J Nucl Med 1993 ; 34: 198
78. 78 Wong DF, Harris J, Yung B, et al. In vivo PET imaging and quantification of dopamine transporter sites with 11 C‐WIN inLesch‐Nyhan syndrome. Soc Neurosci 1992 ; 18: 3
79. 79 Lloyd KG, Hornykiewicz O, Davidson L, et al. Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch‐Nyhan syndrome. N Engl J Med 1981 ; 305: 1106–1111
80. 80 Wong DF, Naidu S, Yokoi F, et al. In‐vivo imaging of pre‐ and postynaptic dopamine receptors in Rett syndrome. Neuroscience 1996 ; 22: 109 (Abstract)
81. 81 Huttenlocher PR, de‐Courten C. The development of synapses in striate cortex of man. Hum Neurobiol 1987 ; 6: 1–9
82. 82 Lauder JM, Neurotransmitters as growth regulatory signals: role of receptors and second messengers. Trends Neurosci 1993 ; 16: 233–240
83. 83 Mattson MP. Neurotransmitters in the regulation of neuronal cytoarchitecture. Brain Res 1988 ; 472: 179–212
84. 84 Zheng JQ, Felder M, Connor JA, Poo M. Turning of nerve growth cones induced by neurotransmitters. Nature 1994 ; 368: 140–144
85. 85 Kalsbeek A, Matthijssen MAH, Uylings HBM. Morphometric analysis of prefrontal cortical development following neonatal lesioning of the dopaminergic mesocortical project. Exp Brain Res 1989 ; 78: 279–289
86. 86 Wendland S, Crow TJ, Stirling RV. Involvement of the noradrenergic system arising from the locus coeruleus in the postnatal development of the cortex in rat brain. Brain Res 1977 ; 125: 1–9
87. 87 McDonald JW, Johnston MV. Physiological and pathological roles of excitatory amino acids during central nervous system development. Brain Res 1990 ; 15: 41–70
88. 88 Li Y, Holtzman DM, Kromer LF, et al. Regulation of TrkA and ChAT expression in developing rat basal forebrain: evidence that both exogenous and endogenous NGF regulate differentiation of cholinergic neurons. J Neurosci 1995 ; 15: 2888–2905
89. 89 Davies S, Beardsall K. Nerve growth factor selectively prevents excitotoxin‐induced degeneration of striatal cholinergic neurons. Neurosci Lett 1992 ; 140: 161–164
90. 90 Lin LF, Doherty DH, Lile JD, et al. GDNF: a glial cell line derived neurotrophic factor for midbrain dopaminergic neurons. Science 1993 ; 260: 1130–1132
91. 91 Klein R, Smeyne RJ, Wurst W, et al. Targeted disruption of the trkB neurotrophin receptor gene results in nervous system lesions and neonatal death. Cell 1993 ; 75: 113–122
92. 92 Smeyne RJ, Klein R, Schnapp A, et al. Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene. Nature 1994 ; 368: 246–249
93. 93 Klein R, Silos‐Santiago I, Smeyne RJ, et al. Disruption of the neurotrophin‐3 receptor gene trkC eliminates Ia muscle afferents and results in abnormal movements. Nature 1994 ; 368: 249–251
94. 94 Yan Y, Narayanan V, Lagenaur C. Expression of members of the proteolipid protein gene family in the developing murine central nervous system. J Comp Neurol 1996 ; 370: 465–478
95. 95 Lagenaur C, Kunemund V, Fischer G, et al. Monoclonal M6 antibody interferes with neurite extension of cultured neurons. J Neurobiol 1992 ; 23: 71–88
96. 96 Olinsky S, Loop BT, DeKosky A, et al. Chromosomal mapping of the human M6 genes. Genomics (in press)
97. 97 Rapin I. Autistic children: diagnosis and clinical features. Pediatrics 1991 ; 87: 751–760
98. 98 Budden SS. Management of Rett syndrome: a ten year experience. Neuropediatrics 1995 ; 26: 75–77
99. 99 Percy AK, Glaze DG, Schultz RJ, et al. Rett syndrome: controlled study of an oral opiate antagonist, naltrexone. Ann Neurol 1994 ; 35: 464–470
100. 100 Egger J, Hofacker N, Schiel W, Holthausen H. Magnesium for hyperventilation in Rett's syndrome. Lancet 1992 ; 340: 621–622