Rett Syndrome: Investigation of nine patients, including PET scan

Canadian Journal of Neurological Sciences

Volumn 29, Issue 4, 2002, Pages 345-357

  Dunn, Henry G ^a,c   Stoessl, A Jon ^a   Ho, Helena H ^a   MacLeod, Patrick M ^b   Poskitt, Kenneth J ^c   Doudet, Doris J ^a   Schulzer, Michael ^a   Blackstock, Derek ^a   Dobko, Teresa ^d   Koop, Ben ^a   De Amorim, Giovana V ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b Capital Health Region ^*  (Canada)

^c BC CHILDREN S HOSPITAL   (Canada)

^d TRIUMF   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

6 FLUORODOPA F 18; CARBON 11; RACLOPRIDE; RADIOPHARMACEUTICAL AGENT;

ADOLESCENT; ADULT; ARTICLE; BASAL GANGLION; BRAIN DEVELOPMENT; BRAIN SIZE; CHILD; CLINICAL ARTICLE; DEMENTIA; DEVELOPMENTAL DISORDER; DOPAMINERGIC SYSTEM; FEMALE; HUMAN; NEURORADIOLOGY; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RECEPTOR BINDING; RETT SYNDROME;

EID: 0036860585     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100002213     Document Type: Article

References (106)

1. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases. Ann Neurol 1983;14:471-479.
2. Rett A. Über ein eigenartiges hirnatrophisches Syndrom bei Hyperammonämie im Kindesalter. Wien Med Wochenschr 1966;116:723-726
3. 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(Suppl 1):47-59.
4. Rett Syndrome Diagnostic Criteria Work Group. Diagnostic criteria for Rett syndrome. Ann Neurol 1988;23:425-428.
5. Haas RH, Dixon SD, Sartoris DJ, Hennessy MJ. Osteopenia in Rett syndrome. J Pediatr 1997;131:771-774.
6. Leonard H, Thomson MR, Glasson EJ, et al. A population-based approach to the investigation of osteopenia in Rett syndrome. Dev Med Child Neurol 1999;41:323-328.
7. Motil KJ, Schultz RJ, Browning K, et al. Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr 1999;29:31-37.
8. Dunn HG, MacLeod PM. Rett syndrome: Review of biological abnormalities. Can J Neurol Sci 2001;28:16-29.
9. Armstrong DD. The neuropathology of Rett syndrome: Overview 1994. Neuropediatrics 1995;26:100-104.
10. Bauman ML, Kemper TL, Arin DM. Microscopic observations of the brain in Rett syndrome. Neuropediatrics 1995;26:105-108.
11. Kitt CA, Wilcox BJ. Preliminary evidence for neurodegenerative changes in the substantia nigra of Rett syndrome. Neuropediatrics 1995;26:114-118.
12. 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.
13. Lekman A, Witt-Engerström I, Holmberg B, et al. CSF and urine biogenic amine metabolites in Rett syndrome. Clin Genet 1990;37:173-178.
14. Zoghbi HY, Percy AK, Glaze DG, Butler IJ, Riccardi VM. Reduction of biogenic amine levels in the Rett syndrome. N Engl J Med 1985;313:921-924.
15. Lekman A, Witt-Engerström I, Gottfries J, et al. Rett syndrome: Biogenic amines and metabolites in postmortem brain. Pediatr Neurol 1989;5:357-362.
16. Wenk GL, Naidu S, Casanova MF, Kitt CA, Moser H. Altered neurochemical markers in Rett syndrome. Neurology 1991;41:1753-1756.
17. Wenk GL, O'Leary M, Nemeroff CB, et al. Neurochemical alterations in Rett syndrome. Dev Brain Res 1993;74:67-72.
18. Wenk GL. Alterations in dopaminergic function in Rett syndrome. Neuropediatrics 1995;26:123-125.
19. Wenk GL. Rett syndrome: Evidence for normal dopaminergic function. Neuropediatrics 1996;27:256-259.
20. Naidu S, Kaufmann W, Abrams M, et al. Neuroimaging studies in Rett syndrome. World Congress on Rett Syndrome 2000. Plenary Lecture IV:6.
21. Chiron C, Bultreau C, Loch C, et al. Dopaminergic D2 receptor SPECT imaging in Rett syndrome: Increase of specific binding in striatum. J Nucl Med 1993;34:1717-1721.
22. Schanen C, Francke U. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map. Am J Hum Genet 1998;63:267-269.
23. Sirianni N, Naidu S. Pereira J, et al. Rett syndrome: Confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet 1998;63:1552-1558.
24. Webb T, Clarke A, Hanefeld F. et al. Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28. J Med Genet 1998;35:997-1003.
25. 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.
26. Nan X, Meehan RR, Bird A. Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. Nucleic Acids Res 1993;21:4886-4892.
27. Nan X, Campoy FJ, Bird A. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 1997;88:471-481.
28. Yusufzai TM, Wolffe AP. Functional consequences of Rett syndrome mutations on human MeCP2. Nucleic Acids Res 2000;28:4172-4179.
29. Percy AK. Genetics of Rett syndrome: Properties of the newly discovered gene and pathobiology of the disorder. Curr Opin Pediatr 2000;12:589-595.
30. Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet 2002;11:115-124.
31. Meloni I, Bruttini M, Longo I, et al. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet 2000;67:982-985.
32. Moncla A, Kpebe A, Missirian C, Mancini J, Villard L. Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: Implications for genetic counselling. Eur J Hum Genet 2002;10:86-89.
33. Amir RE, Van den Veyver IB, Schultz R, et al. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 2000;47:670-679.
34. Villard L, Kpebe A, Cardoso C, et al. Two affected boys in a Rett syndrome family. Clinical and molecular findings. Neurology 2000;55:1188-1193.
35. Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M. Rett syndrome in a boy with a 47, XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics 2001;32:162-164.
36. Vorsanova SG, Demidova IA, Ulas VY, et al. Cytogenic and molecular-cytogenic investigation of Rett syndrome: Analysis of 31 cases. Neuroreport 1996;8:187-189.
37. Leonard H, Silverstein J, Falk R, et al. Exploring the male phenotype. World Congress on Rett Syndrome 2000. Abstract PO-3:34.
38. Topcu M, Akyerli C, Sayi A, et al. Somatic mosaicism for a MeCP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet 2002;10:77-81.
39. Orrico A, Lam C-W, Galli L, et al. MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett 2000;481:285-288.
40. Klauck SM, Lindsay S, Beyer KS, et al. A mutation hotspot for non-specific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet 2002;70:1034-1037.
41. Wan M, Lee SSJ, Zhang X, et al. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CPG hotspots. Am J Hum Genet 1999;65:1520-1529.
42. Francke U. Spectrum of MECP2 mutations in Rett syndrome. World Congress on Rett Syndrome 2000. Symposium I:9.
43. Buyse IM, Fang P, Hoon KT, Amir RE, et al. Diagnostic testing for Rett Syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms. Am J Hum Genet 2000;67:1428-1436.
44. Huppke P, Laccone F, Krämer N, Engel W, Hanefeld F. Rett syndrome: Analysis of MeCP2 and clinical characterization of 31 patients. Hum Molec Genet 2000;9:1369-1375.
45. Van den Veyver IB, Zoghbi HY. Methyl-CpG binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev 2000;10:275-279.
46. Cheadle JP, Gill H, Fleming N, et al. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of the disease severity with mutation type and location. Hum Mol Genet 2000;9:1119-1129.
47. Amano K, Nomura Y, Segawa M, Yamakawa K. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. J Hum Genet 2000;45:231-236.
48. Bienvenu T, Carrie A, DeRoux N, et al. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 2000;9:1377-1384.
49. Hoffbuhr K, Devaney JM, La Fleur B, et al. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 2001;56:1486-1495.
50. Laccone F, Huppke P, Hanefeld F, Meins M. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. Hum Mutat 2001;17:183-190.
51. Hampson K, Woods CG, Latif F, et al. Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. J Med Genet 2000;37:610-612.
52. Xiang F, Buervenich S, Nicolao P, et al. Mutation screening in Rett syndrome patients. J Med Genet 2000;37:250-255.
53. Duvoisin RC. Modified Columbia Scale. The evaluation of extrapyramidal disease. Symposium Bel-Air. In: de Ajuriaguerra J, Gauthier G, eds. Monoamines Noyaux Gris Centraux et Syndrome de Parkinson. Geneva: Georg et Cie. 1971:313-325.
54. Burke RE, Fahn S, Marsden CD, et al. Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 1985;35:73-77.
55. Knobloch H, Pasamanick B, eds. Gesell and Amatruda's Developmental Diagnosis: The Evaluation and Management of Normal and Abnormal Neuropsychologic Development in Infancy and Early Childhood. 3rd Ed. Hagerstown, MD: Harper & Row, Inc, 1974.
56. Knobloch H, Stevens F, Malone AF. Manual of Developmental Diagnosis: The Administration and Interpretation of the Revised Gesell and Amatruda Developmental and Neurologic Examination. Hagerstown, MD: Harper & Row, 1980:17-149.
57. Alpern G, Boll T, Shearer M. Developmental Profile II Manual. Los Angeles: Western Psychological Services, 1992:Sixth Edition.
58. Plummer GF. Improved method for the determination of propofol in blood by high performance liquid chromatography with fluorescence detector. J Chromatogr 1987;421:171-176.
59. Julu POO. The central autonomic disturbance in Rett syndrome. In: Kerr A, Witt-Engerström I (Eds.) Rett Disorder and the Developing Brain. Oxford Univ Press: 2001:131-181.
60. Woods RP, Mazziotta JC, Cherry SR. MRI-PET registration with automated algorithm. J Comput Assist Tomogr 1993;17:536-546.
61. 18F] fluorodopa positron emission tomography studies. Mov Disord 1990;5:203-213.
62. 11C]-raclopride studies. J Cereb Blood Flow Metab 1996;16:42-52.
63. Nellhaus G. Head circumference from birth to 18 years. Practical composite international and interracial graphs. Pediatrics 1968;41:106.
64. Hansman C. Anthropometry and related data. In: McCammon RW (Ed.) Human Growth and Development. Springfield, IL: C.C. Thomas, 1970:101-154.
65. Stenbom Y, Witt-Engerström I, Hagberg B. Gross motor disability and head growth in Rett syndrome. Neuropediatrics 1995;26:85-86.
66. Hagberg G, Stenbom Y, Witt-Engerström I. Head growth in Rett syndrome. Acta Paediatrica 2000;89:198-202.
67. Marcus CL, Carroll JL, McColley SA, et al. Polysomnographic characteristics of patients with Rett syndrome. J Pediatr 1994;125:218-224.
68. Witt-Engerström I. Age-related occurrence of signs and symptoms in the Rett syndrome. Brain Dev 1992;14 (Suppl):S11-S20.
69. Kerr AM, Witt-Engerström I. The clinical background to the Rett disorder. In: Kerr A, Witt Engerström I, (Eds.) Rett Disorder and the Developing Brain. Oxford Univ Press, 2000:1-26.
70. Elian M, Rudolf ND. Observations on hand movements in Rett syndrome - A pilot study. Acta Neurol Scand 1996;94:212-214.
71. Auranen M, Vanhala R, Vosman M, et al. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology 2001;56:611-617.
72. Dunn HG. Importance of Rett syndrome in child neurology. Brain Dev 2001;23:S38-S43.
73. Leenders KL, Palmer AJ, Quinn N, et al. Brain dopamine metabolism in patients with Parkinson's disease measured with positron emission tomography. J Neurol Neurosurg Psychiatry 1986;49:853-860.
74. Sawle GV, Playford ED, Burn DJ, et al. Separating Parkinson's disease from normality. Discriminant function analysis of fluorodopa F18 positron emission tomography data. Arch Neurol 1994;51:237-243.
75. 18F] dopa PET findings in early Parkinson's disease. J Neurol Neurosurg Psychiat 1995;59:597-600.
76. Vingerhoets FJG, Snow BJ, Schulzer MJ, et al. Reproducibility of fluorine-18-6-fluorodopa positron emission tomography in normal human subjects. J Nucl Med 1994;35:18-24.
77. 11C-raclopride in early Parkinson's disease. Acta Radiol 1991; suppl 376:151.
78. 11C]-raclopride. J Cereb Blood Flow Metab 1991;11 Suppl 2:818.
79. 11C-raclopride and positron emission tomography. Ann Neurol 1992;32:184-192.
80. 11C]-raclopride. J Neurol Sci 1995;132:156-161.
81. Antonini A, Vontobel P, Psylla M. et al. Complementary positron emission tomographic studies of the striatal dopaminergic system in Parkinson's disease. Arch Neurol 1995;52:1183-1190.
82. Saint-Hilaire M-H, Burke RE, Bressman SB, Brin MF, Fahn S. Delayed onset dystonia due to perinatal or early childhood asphyxia. Neurology 1991;41:216-222.
83. Bhatt MH, Obeso JA, Marsden CD. Time course of post-anoxic akinetic-rigid and dystonic syndromes. Neurology 1993;43:314-317.
84. Johnston MV, Hoon AH Jr. Possible mechanisms in infants for selective basal ganglia damage from asphyxia, kernicterus, or mitochondrial encephalopathies. J Child Neurol 2000;15:588-591.
85. Segawa M. Neurons and neuronal systems involved in pathophysiology of Rett syndrome - From the standpoint of clinical neurology. World Congress on Rett Syndrome 2000, Nagano, Japan, Round Table Discussion:17.
86. 18F] fluoro-L-dopa studied with PET in normal control and Parkinson's disease subjects. Synapse 2000;377:81-89.
87. 18F] fluoro-L-dopa/PET scans in non-human primates. Life Sci 1995;56:1759-1766.
88. Cordes M, Snow BJ, Cooper S, et al. Age-dependent decline of nigrostriatal dopaminergic function: A positron emission tomographic study of grandparents and their grandchildren. Ann Neurol 1994;36:667-670.
89. 18F-dopa uptake: Absence of an aging effect. J Cereb Blood Flow Metab 1993;13:881-888.
90. Borgeat A, Wilder-Smith OHG, Suter PM. The nonhypnotic therapeutic applications of Propofol. Anesthesiology 1994;80:642-656.
91. Fulton B. Sorkin EM. Propofol, an overview of its pharmacology. Drugs 1995;50:636-657.
92. Bray RJ. Propofol infusion syndrome in children. Paediatr Anaesth 1998;8:491-499.
93. Alkire MT, Haier RJ, Barker SJ, et al. Cerebral metabolism during Propofol anesthesia in humans studied with positron emission tomography. Anesthesiology 1995;82:393-403.
94. Schulte D, Callado LF, Davidson C, et al. Propofol decreases stimulated dopamine release in the rat nucleus accumbens by a mechanism independent of dopamine D2, GABA A and NMDA receptors. Br J Anaesth 2000;84:250-253.
95. Shyr M-H, Tsai TH, Yang C-H, et al. Propofol anesthesia increases dopamine and serotonin activities at the somatosensory cortex in rats: A microdialysis study. Anesth Analg 1997;84:1344-1348.
96. Appadu BL, Strange PG, Lambert DG. Does Propofol interact with D2 dopamine receptors? Anesth Analg 1994;79:1191-1192.
97. Borgeat A, Ruetsch YA. Spontaneous movement, Propofol and dopamine receptors. (Letter) Anaesthesia 1997;52:808-809.
98. Giunti L, Pelagatti V, Lazzerini S, et al. Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: Tentative genotype/phenotype correlation. Brain Dev 2001;23 (Suppl 1):S242-S245.
99. Monrós E, Armstrong J, Aibar E, et al. Rett syndrome in Spain: Mutation analysis and clinical correlations. Brain Dev 2001;23 (Suppl 1):S251-S253.
100. Chae JH, Hwang YS, Kim KJ. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. J Child Neurol 2002;17:33-36.
101. 11C]N-methylspiperone. J Nucl Med 2000;41:65-70.
102. Singer HS, Naidu SB. Rett syndrome: "We'll keep the genes on for you". Neurology 2001;56:582-585.
103. Xiang F, Stenbom Y. Anvret M, Hagberg B. Closely related Swedish Rett syndrome females - None with MECP2 mutation revealed. Neuropediatrics 2001;32:217-218.
104. Couvert P, Bienvenu T, Aquaviva C, et al. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet 2001;10:941-946.
105. Huppke P, Held M, Hanefeld F, Engle W, Laccone F. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 2002;33:63-68.
106. Huppke P, Bohlander S, Krämer N, Laccone F, Hanefeld F. Altered methylation pattern of the G6PD promoter in Rett syndrome. Neuropediatrics 2002;33:105-108.