Rett Syndrome

Indian Journal of Pediatrics

Volumn 64, Issue 5, 1997, Pages 651-659

  Naidu, Sakku Bai ^a,b  

^a DEPARTMENT OF PATHOLOGY   (United States)

^b NONE   (United States)

Author keywords

Fronto temporal caudate hypotrophy; Microcephaly; Neurodevelopmental disorder; Scoliosis; Seizures; Stereotyped behaviours

Indexed keywords

AGE DISTRIBUTION; CHILD; FEMALE; GENETICS; HUMAN; INCIDENCE; INFANT; MALE; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PROGNOSIS; RETT SYNDROME; REVIEW; SEX RATIO; UNITED STATES;

AGE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INCIDENCE; INFANT; MALE; PROGNOSIS; RETT SYNDROME; SEX DISTRIBUTION; UNITED STATES;

EID: 0031215429     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02726119     Document Type: Article

References (54)

1. Coleman M. Is classical Rett syndrome ever present in males? Brain Dev 1990; 12 : 31-32.
2. Philippart M. The Rett syndrome in males. Brain Dev 1990; 12 : 33-36.
3. Christen HJ, Hanefeld F. Male Rett variant. Neuroped 1995; 26 : 81-82.
4. Rett A. Euber eine eiggenartiges hirnatrophisches Syndrome bei hyperammonamie iim Kindersalter. Wieen Med Wochensch 1966; 116 : 723-728.
5. 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.
6. Naidu S, Murphy M, Moser HW, Rett A. Rett syndrome : Natural history in 70 cases. Am J Med Genet 1986; 24 : 61-72.
7. Naidu S, Hyman S, Harris EL et al. Rett syndrome studies of natural history and search for a genetic marker. Neuroped 1995; 26 : 63-66.
8. Kozinetz CA, Skender ML, Mac-Naughton N et al. Epidemiology of Rett syndrome : A population-based registry. Pediatr 1993; 91(2) : 445-450.
9. Witt-Engerström I, Forslund M. Mother and daughter with Rett syndrome. Dev Med Child Neurol 1992; 34 : 1022-1023.
10. Naidu S, Kitt CA, Wong DF et al Research on Rett syndrome : Strategy and preliminary results. J Child Neurol 1988; 3 (suppl) : S78-S86.
11. Commings 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.
12. 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.
13. 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.
14. Anvret M, Wahlstrom 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.
15. Webb T, Watkiss E, Woods C. Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome. Clin Genet 1993; 44: 236-240.
16. 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.
17. Benedetti L, Munnich A, Melki J et al. Parental origin of the X-chromosomes in Rett syndrome (Letter). Am J Med Genet 1992; 44(1) : 121-123.
18. Migeon BR, Dunn MA, Thomas G et al. Studies of X-inactivation and isodosomy in twins provide further evidence that the X-chromosome is not involved in Rett syndrome. Am J Hum Genet 1995; 56 : 647-653.
19. Zoghbi HY, Percy AK, Schultz RJ, Fill C. Patterns of X-chromosome inactivation in the Rett syndrome. Brain Dev 1990; 12 : 131-135.
20. Murphy M, Naidu S, Moser HW. Rett syndrome : Observational study of 33 families. Am J Med Genet 1986; 24 : 73-76.
21. 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.
22. Haas RH, Nasirian F, Hua X et al. Oxidative metabolism in Rett syndrome : Biochemical and molecular studies. Neuroped 1995; 26 : 95-99.
23. Hagberg B, Witt-Engerström I. Rett syndrome : A suggested staging system for describing impairment profile with increasing age towards adolescence. Amer J Med Genet 1986; 24 : 47-59.
24. Niedermeyer E, Naidu S, Plate C. Unusual EEG theta rhythms over central region in Rett syndrome : Considerations of the underlying dysfunction. Clin EEC 1997; 28(1) : 36-43.
25. Niedermeyer E, Naidu S. Further EEG observations in children with the Rett syndrome. Brain Dev 1990; 12 : 53-54.
26. Badr G, Witt-Engerstrom I, Hagberg B. Neurophysiological findings in Rett syndrome : Visual and auditory brainstem, middle, and late evoked responses. Brain Dev 1989; 11 : 110-114.
27. Haas RH, Love S, Peripheral nerve findings in Rett syndrome. J Child Neurol 1988; 3(suppl) : S25-S30.
28. Coker SB, Melnyk AR. Rett syndrome and mitochondrial enzyme deficiencies. J Child Neurol 1990; 6 : 164-166.
29. Naidu S, Chatterjee S, Murphy M et al. Rett syndrome : New observations. Brain Dev 1987; 9 :525-528.
30. Glaze DG. Commentary : The challenge of Rett syndrome. Neuropediatr 1995; 26 : 78-80.
31. Jellinger K, Armstrong D, Zoghbi HY, Percy AK. Neuropathology of Rett syndrome. Acta Neuropathol 1988; 76 : 142-158.
32. Armstrong D. The neuropathology of Rett syndrome-Overview. Neuroped 1995; 26 :100-102.
33. Bauman ML, Kemper TL, Arin DM. Pervasive neuroanatomic abnormalities of the brain in three cases of Rett syndrome. Neurology 1995; 45 : 1581-1586.
34. Armstrong D, Dunn JK, Antalffy B, Trivedi R. Selective dendritic alterations in the cortex of Rett syndrome. J Neuropath Exp Neurol 1995; 54 : 195-201.
35. Belichenko PV, Hagberg B, Dahlstrom A. Morphological study of neocortical areas in Rett syndrome. Acta Neuropath 1997; 93 : 50-61.
36. Bauman ML, Kemper TL, Arin DM. Microscopic observations of the brain in Rett syndrome. Neuropediatr 1995; 26 : 105-108.
37. Oldfors A, Sourander P, Armstrong DL et al. Rett syndrome : Cerebellar pathology. Pediatr Neurol 1990; 6 : 310-314.
38. Oldfors A, Hagberg B, Nordgren H et al. Rett syndrome : Spinal cord neuropathology, Pediatr Neurol 1988; 4 :172-174.
39. 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.
40. Kitt CA, Wilcox BJ. Preliminary evidence for neurodegenerative changes in the substantia nigra of Rett syndrome. Neuropediatr 1995; 26 :114-118.
41. Reiss AL, Faruque F, Naidu S et al. Neuroanatomy of Rett syndrome : A Volumetric imaging study. Ann Neurol 1993; 34 : 227-234.
42. Yoshikawa H, Fueki N, Suzuki H, Sakuragawa N, Iio M. Cerebral blood flow and oxygen metabolism in the Rett syndrome. Brain Dev 1992; 14(suppl) : S69-S74.
43. Uvebrant P, Bjure J, Sixt R, Witt-Engerström I, Hagberg B. In : Hagberg B, ed. Rett syndrome-Clinical & Biological Aspects London : MacKeith Press, 1983 : 80-85.
44. Matus A. Microtubule-associated proteins. Ann Rev Neurosci 1988; 11: 29-44.
45. Kaufmann WE, Naidu S, Budden S. Abnormal expression of microtubule- associated protein 2 (MAP-2) in neocortex in Rett syndrome. Neuropediatr 1995; 26 : 109-113.
46. Van der Zee EA, Douma BRK, Bohus B, Luiten PGM. Passive avoidance training induces enhanced levels of immunoreactivity for muscarinic acetylcholine receptor and coexpressed PKC and MAP-2 in rat cortical neurons. Cereb Cart 1994; 4 : 376-390.
47. Woolf NJ, Young SL, Johnson GVW, Fanselow MS. Pavlovian conditioning alters cortical microtubule-associated protein 2. Neuro Rpt 1994; 5 : 1045-1048.
48. Johnson GWM, Jope RS. The role of microtubule-associated protein-2 (MAP-2) in neuronal growth, plasticity, and degeneration. J Neurosci Res 1992; 33 : 505-512.
49. Woolf NJ. Cholinoreceptive cells in rat cerebral cortex : Somatodendritic immunoreactivity for muscarinic receptor and cytoskeletal proteins, J Chem Neuroanat 1993; 6 : 375-390.
50. Wenk GL. Alterations in dopaminergic function in Rett syndrome. Neuroped 1995; 26 :123-125.
51. Wong DF, Naidu S, Yokoi F et al. In vivo imaging of pre- and postsynaptic dopamine-receptors in Rett syndrome. Soc Neurosc (Abstr) 1996; 22(1) : 23-18.10.
52. Blue ME, Naidu S, Moser HW, Johnston MV. Glutamate receptor, density is decreased in basal ganglia of patients with Rett syndrome. Soc Neurosc (Abstr) 1995; 21 : 735.
53. Percy AK, Glaze DG, Sphultz RJ et al. Rett syndrome : Controlled study of an oral opiate antagonist, naltrexone. Ann Neurol 1994; 35(4) : 464-470.
54. Egger J, Hofacker, N, Schiel W, Holthausen H. Magnesium for hyperventilation in Rett syndrome. Lancet 1992; 340 : 621-622.