Review of Rett syndrome

Journal of Neuropathology and Experimental Neurology

Volumn 56, Issue 8, 1997, Pages 843-849

  Armstrong, Dawna Duncan ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BODY SIZE; BRAIN SIZE; CHILD; CHILD DEVELOPMENT; CHILDHOOD DISEASE; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; FEMALE; GENETIC DISORDER; HUMAN; NEUROLOGIC DISEASE; NEUROPATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; REVIEW;

EID: 0030877362     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005072-199708000-00001     Document Type: Review

References (92)

1. Rett A. Uber ein zerebral - atrophisches syndrom bein hyperammonamie. Wien Med Wochenschr 1966;116:723-26
2. Rett A, Vinken PW, Bruyn GW, eds. Handbook of clinical neurology. Amsterdam, New York and North Holland: Oxford, 1977;29: 305-25
3. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Report of 35 cases. Ann Neurol 1983;14:471-79
4. Hagberg B. Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand 1985;74:405
5. Casinos CA, Sender ML, MacNaughton N, Almes MJ, Schultz R, Percy AK, Glaze DG. Epidemiology of Rett syndrome: A population based registry. Ped 1993;91:445-49
6. Nomura Y, Segawa M. Motor symptoms of the Rett syndrome: Abnormal tone, posture, locomotion and stereotyped movement. Brain Dev 1992;14(suppl):S21-28
7. Kerr AM. Early clinical signs in the Rett disorder. Neuropediatrics 1995;26:67-71
8. Hagberg B, Engerstrom W. Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Gen 1986;24:1-20
9. The Rett syndrome diagnostic criteria work group. Diagnostic criteria for Rett syndrome. Ann Neurol 1988;23:425-28
10. Hagberg B. The Rett syndrome: An introductory overview 1990. Brain Dev 1992;14(suppl):S5-8
11. Sekul EA, Percy AK, Appel S, eds. Current neurology, vol 12. St. Louis: Mosby-Year Book, 1992:173-200
12. Sekul EA, Moak JP, Schultz RJ, Glaze DG, Dunn JK, Percy AK. Electrographic findings in Rett syndrome: An explanation for sudden death? J Pediatr 1994;125:80-82
13. Percy AK, Gillberg C, Hagberg B, Witt-Engerstrom I. Rett syndrome and the autistic disorders. Neurologic Clinics 1990;8:659-76
14. Woodyatt G, Ozanne A. Communication abilities and Rett syndrome. J Autism Dev Disord 1992;22(2):155-73
15. Glaze DG, Frost JD, Zoghbi HY, Percy AK. Rett syndrome: Correlation of electroencephalographic characteristics with clinical staging. Arch Neurol 1987;44:1053-56
16. Glaze DG, Frost JD, Jr., Zoghbi HY, Percy AK. Rett's syndrome: Characterization of respiratory patterns and sleep. Ann Neurol 1987;21:377-82
17. Kerr AM. A review of the respiratory disorder in Rett syndrome. Brain Dev 1992;114 (Suppl):S43-45
18. Fitzgerald PM, Jankovic J, Percy AK. Rett syndrome and associated movement disorders. Movement Disorders 1990;5(3):195-202
19. Percy AK, Zoghbi HY, Lewis KR, Jankovic J. Rett syndrome: Qualitative and quantitative differentiation from autism. J Child Neurol 1988;3 Supplement:S65-67
20. Zoghbi HY. Genetic aspects of Rett syndrome. J Child Neurology 1988;3:76-78
21. Zoghbi HY, Ledbetter DH, Schultz R, Percy AK, Glaze DG. A de novo KX;3 translocation in Rett syndrome. Amer J Med Gen 1990;35:148-51
22. Ellison KA, Fill CP, Terwilliger J, et al. Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet 1992;50:278-87
23. Ellison KA, Roth EJ, McCabe ERB, Chinault AC, Zoghbi HY. Isolation of a yeast artificial chromosome contig spanning the X chromosome translocation breakpoint in a patient with Rett syndrome. Am J Med Genet 1993;47:1124-34
24. Engerstrom W, Forslund M. Mother and daughter with Rett syndrome (letter). Dev Med Child Neurol 1992;34:1022-23
25. Akesson HO, Hagberg B, Wahlstrom J, Witt-Engerstrom I. Common origins in Rett's syndrome. The Lancet 1991:337
26. Percy AK. Rett syndrome. Curr Opin Neurol 1995;8:156-60
27. Cooke DW, Sakkubai N, Plotnick L, Berkovitz GD. Abnormalities of thyroid function and glucose control in subjects with Rett syndrome. Horm Res 1995;43:273-78
28. Jellinger K, Seitelberger F. Neuropathology of Rett syndrome. Amer J Med Gen 1986;24:259-88
29. Fitzgerald PM, Jankovic J, Glaze DG, Schultz R, Percy AK. Extrapyramidal involvement in Rett's syndrome. Neurol, 90;40:293-95
30. Zoghbi HY, Percy AK, Glaze DG, Butler IJN, Riccardi VM. Reduction of biogenic amenic levels in the Rett syndrome. N Eng J Med 1985;313:921-24
31. Zoghbi HY, Milstien S, Butler IJ, Smith EO, Kaufman S, Glaze DG, Percy AK. Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Ann Neurol 1989;25:56-60
32. 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;112:234-38
33. Lekman A, Witt-Engerstrom I, Holmber B, Percy AK, Svennerholm L, Hagberg B. CSF and urine biogenic amine metabolites in Rett syndrome. Clinic Genetics 1990;37:173-78
34. Percy AK. Neurochemistry of the Rett syndrome. Brain Dev 1992;14(Suppl):S57-62
35. Nielsen JB, Bertelsen A, Lou HC. Low CSF HVA levels in the Rett syndrome: A reflection of restricted synapse formation? Brain Dev 1992;14(suppl):S63-65
36. Brucke T, Sofie E, Killian W, Rett A, Riederer P. Reduced concentration and increased metabolism of biogenic amines in a single case of Rett syndrome: A post-mortem brain study. J Neural Transm 1987;68:315-24
37. Lekman A, Witt-Engerstrom I, Gottfries J, Hagberg B, Percy AK, Svennerholm L. Rett syndrome biogenic amines and metabolites in postmortem brain. Pediatr Neurol 1989;5:357-62
38. Chiron C, Bulteau C, Loc'h C, Raynaud C, Garreau B, Syrota A, Maziere B. Dopaminergic D2 receptor SPECT imaging in Rett syndrome: Increase of specific binding in striatum. J Nucl Med 1993;34:1717-21
39. Wenk GL, O'Leary M, Nemeroff CB, Bissette G, Moser H, Naidu S. Neurochemical alterations in Rett syndrome. Dev Brain Res 1993;74:67-72
40. Wenk GL, Naidu S, Moser H. Altered neurochemical markers in Rett syndrome [abstract]. Ann Neurol 1989;26:467
41. Wenk GL, Naidu S, Casanova MF. Altered neurochemical markers in Rett syndrome. Neurol 1991;41:1753-56
42. Wenk GL. Alterations in dopaminergic function in Rett syndrome. Neuropediatrics 1995;26:123-25
43. Perry BD, Vigilante D, Armstrong D. Altered dopaminergic receptor binding sites in the caudate nucleus of subjects with Rett syndrome [abstract]. Hand in hand with Rett syndrome 1996:104
44. Dure L. Hand in hand with Rett syndrome, Gotenburg, Sweden. Platform Presentation 1996
45. Campos-Castello J, De Yebenes JG, Mena MA, Garcia FO. Cerebrospinal fluid concentration of homovanillic acid and 5-hydroxyindoleacetic acid in patients with Rett syndrome. Int Pediatr 1991;6(4):340-42
46. Budden SS, Myer EC, Butler IJ. Cerebrospinal fluid studies in the Rett syndrome: Biogenic amines and beta-endorphins. Brain Dev (Tokyo) 1990;12:81-84
47. Jellinger K, Armstrong D, Zoghbi HY, Percy AK. Neuropathology of Rett syndrome. Acta Neuropathol 1988;76:142-58
48. Percy AK, Glaze DG, Schultz RJ, et al. Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone. Ann Neurol 1994;35: 464-70
49. Kitt CA, Troncoso JC, Price DL, Naidu S, Moser HW. Pathological changes in substantia nigra and basal forebrain neurons in Rett syndrome. Ann Neurol 1990;28:416-17
50. Johnston MV, Hohmann C, Blue ME. Neurobiology of Rett syndrome. Neuropediatrics 1995;26:119-22
51. Hamberger A, Gillberg C, Palm A, Hagberg B. Elevated CSF Glutamate in Rett syndrome. Neuropediatrics 1992;23:212-13
52. Jonsson G. Hand in hand with Rett syndrome, Gotenburg, Sweden. Platform Presentation 1996
53. Yoshikawa H, Fueki N, Suzuki H, Sakuragawa N, Masaaki I. Cerebral blood flow and oxygen metabolism in Rett syndrome. J Child Neurol 1991;6:237-42
54. Haas RH, Light M, Rice M, Barshop BA. Oxidative metabolism in Rett syndrome: 1. Clinical studies. Neuropediatrics 1995;26:90-94
55. Matsuishi T, Urabe F, Percy AK, et al. Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome. J Child Neurol 1994;9:26-30
56. Beekman RP, Hofstee N, Smeitink JAM, Poll-The BT, Duran M. Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency. Eur J Pediatr 1994;153:264-66
57. Nielsen JB, Toft PB, Nielsen ER, Jensen KE, Christiansen P, Thomsen C, Henriksen O, Christensen Lou H. Cerebral magnetic resonance spectroscopy in Rett syndrome. Brain & Development 1993;15(2):107-12
58. von Tetzchner S, Jacobsen KH, Smith L, Skjeldal OH, Heiberg A, Fagan JF. Vision, cognition and developmental characteristics of girls and women with Rett syndrome. Dev Med Child Neurol 1996;38:212-25
59. Stach BA, Stoner WR, Smith SL, Jerger JF. Auditory evoked potentials in Rett syndrome. J Am Acad Audiol 1994;5:226-30
60. Badr GG, Witt-Engerstrom I, Hagberg B. Brain stem and spinal cord impairment in Rett syndrome: Somatosensory and auditory evoked responses investigations. Brain Dev (Tokyo) 1987;9:517-22
61. Southall DP, Kerr AM, Tirosh E, Amos P, Lang MH, Stephenson JBP. Hyperventilation in the awake state: Potentially treatable component of Rett syndrome. Arch Dis Child 1988;63:1039-48
62. Marcus CL, Carroll JL, McColley SA, Loughlin GM, Curtis S, Pyzik P, Naidu S. Polysomnographic characteristics of patients with Rett syndrome. J Pediatr 1994;125:218-24
63. Stenbom BY, Engerstrom W, Hagberg B. Gross motor disability and head growth in Rett syndrome - a preliminary report. Neuropediatrics 1995;26:85-86
64. Schultz RJ, Glaze DG, Dunn K, Hebert DA, Percy AK. Hand and foot growth failure in Rett syndrome [abstract]. Hand in hand with Rett syndrome. Goteburg, Sweden 1996:107
65. Armstrong D, Kearney DL, Dunn JK, Hebert D, Schultz R, Chapieski L, Motil K, Zoghbi H, Glaze D. Morphologic studies of selective developmental arrest in Rett syndrome [abstract]. Hand in hand with Rett syndrome. Goteburg, Sweden 1996:50
66. Casanova MF, Naidu S, Goldberg TE, et al. Quantitative magnetic resonance imaging in Rett syndrome. J Neuropsychiatry 1991;3: 67-72
67. Reiss AL, Faruque F, Naidu S, Abrams M, Beaty T, Bryan RN, Moser HW. Neuroanatomy of Rett syndrome: A volumetric imaging study. Ann Neurol 1993;34:227-34
68. Bauman ML, Kemper TK. The neuropathology of Rett syndrome is pervasive throughout the brain [abstract]. Neurol 1991;41:306
69. Bauman ML, Kemper TK. Pervasive neurological abnormalities of the brain in Rett syndrome: A second case. J Neuropath Exp Neurol 1992;51:340
70. Bauman ML, Kemper TK, Arin DM. Microscopic observations of the brain Rett syndrome. Neuropediatrics 1995;26:105-8
71. Armstrong D, Dunn JK, Antalffy B, Trivedi R. Selective dendritic alterations in the cortex of Rett syndrome. J Neuropath Exp Neurol 1995;54(2):195-201
72. Takashima M, Becker LE, Armstrong D, Chan F. Abnormal neuronal development in the visual cortex of the human fetus and infant with Down syndrome: A quantitative and qualitative Golgi study. Brain Res 1981;225:1-21
73. Huttenlocher PR. Dendritic development in neocortex of children with mental defect and infantile spasms. Neurol 1974;24:203-10
74. Coders ME, D'Acuna E, Benbeniste S, Prado R, Nunez JA, Colombo M. Dendritic development in neocortex of infants with early postnatal life undernutrition. Pediatr Neurol 1993;9:475-84
75. Belichenko PV, Leontovich T, Mukhina J, Hagberg B, Dahlstrom A. Morphological studies of neocortical areas and basal ganglia in Rett syndrome [abstract]. Hand in hand with Rett syndrome. Goteburg, Sweden 1996:51
76. 75a. Belichenko PV, Oldfors A, Hagberg B, Dahlström A. Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents. Neuroreport 1994;5:1509-13
77. 75b. Belichenko PA, Hagberg B, Dahlström A. Morphological study of neocortical areas in Rett syndrome. Acta Neuropathol 1997;93: 50-61
78. Armstrong D. The neuropathology of the Rett syndrome. Brain Dev 1992;14 (Suppl):S89-98
79. Oldfors A, Sourander P, Armstrong D, Percy AK, Witt-Engerstrom I, Hagberg B. Rett syndrome: Cerebellar pathology. Ped Neurol 1990;6:310-14
80. Murakami JW, Courchesne E, Haas RH, Press GA, YeungCourchesne R. Cerebellar and cerebral abnormalities in Rett syndrome. AJR Am J Roentgenol 1992;159:177-83
81. Haas RR, Love S. Peripheral nerve findings in Rett syndrome. J Child Neurol 1988;3 (Suppl):S25-30
82. Jellinger K, Griswold W, Armstrong D, Rett A. Peripheral nerve involvement in the Rett syndrome. Brain Dev 1990;12:109-14
83. Wakia S, Kameda I, Ishikawa Y, et al. Rett syndrome: Findings suggesting axonopathy and mitochondrial abnormalities. Ped Neurol 1990;6:339-43
84. Dieler R, Schroder JM, Reddemann K. Electron dense lipidic capillary deposits in Rett syndrome. Acta Neuropathol 1990;79:573-78
85. Eeg-Olofsson O, Al-Zuhair AGH, Teebi AS, Al-Essa MMN. Abnormal mitochondria in the Rett syndrome. Brain Dev (Tokyo) 1988;10:260-62
86. Ruch A, Kurczynski TW, Velasco ME. Mitochondrial alterations in Rett syndrome. Ped Neurol 1989;5:320-23
87. Coker SB, Melnyk AR. Rett syndrome and mitochondrial enzyme deficiencies. J Child Neurol 1991;6:164-66
88. Johnsrude C, Glaze D, Schultz R, Frideman R. Prolonged QT intervals and diminished heart rate variability in patients with Rett syndrome [abstract]. Pacing Clin Electrophysio 1995;18:889
89. Kearney D, Armstrong D, Glaze D. The conduction system in Rett syndrome [abstract]. Hand in Hand with Rett Syndrome 1996:96
90. Armstrong DL. Neuropathology of Rett syndrome. Update, 1994. J Neuroped 1995;26:1-5
91. Kaufmann WE, Naidu S, Budden S. Abnormal expression of microtubule-associated protein 2 (MAP-2) in neocortex in Rett syndrome. Neuropediatrics 1995;26:109-13
92. Kaufmann WE, Taylor CV, Hohmann CF, Israel JJ, Naidu S. Abnormalities in neuronal maturation in Rett syndrome neocortex: Molecular correlates [abstract]. Hand in Hand with Rett Syndrome 1996:64