Rett Syndrome: Exploring the autism link

Archives of Neurology

Volumn 68, Issue 8, 2011, Pages 985-989

  Percy, Alan K ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2; SEROTONIN UPTAKE INHIBITOR;

AUTISM; CLINICAL FEATURE; COGNITIVE DEFECT; DOWN SYNDROME; FRAGILE X SYNDROME; GENE; GENE MUTATION; HUMAN; MECP2 GENE; MISSENSE MUTATION; NEUROBIOLOGY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; REVIEW; SEX DIFFERENCE;

ANIMALS; AUTISTIC DISORDER; COMORBIDITY; DISEASE MODELS, ANIMAL; HUMANS; METHYL-CPG-BINDING PROTEIN 2; PHENOTYPE; RETT SYNDROME; TRANSCRIPTION, GENETIC;

EID: 80051558111     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.149     Document Type: Review

References (22)

1. Rett A. Uber ein cerebral-atrophisches Syndrom bei Hyperammonaemie. Wien, Austria: Bruder Hollinek; 1966.
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's syndrome: report of 35 cases. Ann Neurol. 1983;14(4):471-479. (Pubitemid 13010048)
3. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185-188. (Pubitemid 29455390)
4. 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(16):1313-1321. (Pubitemid 351550354)
5. Neul JL, Kaufmann WE, Glaze DG, et al; RettSearch Consortium. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68(6):944-950.
6. Kaufmann WE, Capone GT, Clarke M, Budimirovic DB. Autism in genetic intellectual disability: insights into idiopathic autism. In: Zimmerman AW, ed. Autism: Current Theories and Evidence. Totowa, NJ: Humana Press; 2008:81-108.
7. Swanberg SE, Nagarajan RP, Peddada S, Yasui DH, LaSalle JM. Reciprocal coregulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism. Hum Mol Genet. 2009;18(3):525-534.
8. Samaco RC, Hogart A, LaSalle JM. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet. 2005;14(4):483-492. (Pubitemid 40277464)
9. Chahrour M, Jung SY, Shaw C, et al. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008;320(5880):1224-1229. (Pubitemid 351929512)
10. Armstrong DD. Review of Rett syndrome. J Neuropathol Exp Neurol. 1997;56(8):843-849. (Pubitemid 27329104)
11. Larimore JL, Chapleau CA, Kudo S, Theibert A, Percy AK, Pozzo-Miller L. Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations. Neurobiol Dis. 2009;34(2):199-211.
12. Chapleau CA, Calfa GD, Lane MC, et al. Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rettassociated MECP2 mutations. Neurobiol Dis. 2009;35(2):219-233.
13. Schanen NC, Kurczynski TW, Brunelle D, Woodcock MM, Dure LS IV, Percy AK. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome. J Child Neurol. 1998;13(5):229-231. (Pubitemid 28255721)
14. Kankirawatana P, Leonard H, Ellaway C, et al. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 2006;67(1):164-166. (Pubitemid 44305487)
15. Friez MJ, Jones JR, Clarkson K, et al. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28 [published online November 6, 2006]. Pediatrics. 2006;118(6):e1687-e1695. http://pediatrics.aappublications.org/content/118/6/e1687.long.
16. Kirby RS, Lane JB, Childers J, et al. Longevity in Rett syndrome: analysis of the North American Database. J Pediatr. 2010;156(1):135-138, e1.
17. Glaze DG, Percy AK, Skinner S, et al. Epilepsy and the natural history of Rett syndrome. Neurology. 2010;74(11):909-912.
18. Percy AK, Lee HS, Neul JL, et al. Profiling scoliosis in Rett syndrome. Pediatr Res. 2010;67(4):435-439.
19. Guy J, Gan J, Selfridge J, Cobb S, Bird A. Reversal of neurological defects in a mouse model of Rett syndrome. Science. 2007;315(5815):1143-1147. (Pubitemid 46328028)
20. Moretti P, Levenson JM, Battaglia F, et al. Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci. 2006;26(1):319-327. (Pubitemid 43089545)
21. McGill BE, Bundle SF, Yaylaoglu MB, Carson JP, Thaller C, Zoghbi HY. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2006;103(48):18267-18272. (Pubitemid 44871647)
22. Silverman JL, Tolu SS, Barkan CL, Crawley JN. Repetitive self-grooming behavior in the BTBR mouse model of autism is blocked by the mGluR5 antagonist MPEP. Neuropsychopharmacology. 2010;35(4):976-989.