Rett syndrome

Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, Armstrong D, Paylor R, Zoghbi H (2002) Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35 243-254 Smith MM (2002) Centromeres and variant histones what, where, when and why Curr Opin Cell Biol 14 279-285... 

Mutation of X chromosome MeCP2 gene results in neurological defects in human females (Rett syndrome) and mice. 

Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency. 

Amir, R.E., Van den Veyver, I.B., Wan, M., Tran, C.Q., Francke, U., and Zoghbi, H.Y. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23 185-188. 

Lombroso, P.J. (2000) Genetics of childhood disorders XIV. A gene for Rett syndrome. / Am Acad Child Adolesc Psychiatry 38 671-674. 

CFD is further associated with the following inherited metabolic disorders 5,10-methylen-tetrahydrofolate reductase (MTHFR) deficiency [7], 3-phos-phoglycerate dehydrogenase (PGDH) deficiency [8], dihydropteridine reductase (DHPR) deficiency [9], as well as with Rett syndrome [10], and Aicardi-Gou res Syndrome [11]. Furthermore, folate deficiency may be associated with congenital folate malabsorption, severe malnutrition, and formiminotransferase deficiency. 

Ramaekers VT, Steen-Ingemann H, Holm J, Opladen T, Senderek J, Hausler M, Heimann G, Fowler B, Maiwald R, Blau N (2003) Reduced folate transport to the brain in Rett syndrome. Neurology 61 506-514... 

Sofic E., Riederer P., Killian W., and Rett A. (1987). Reduced concentrations of ascorbic acid and glutathione in a single case of Rett syndrome a postmortem brain study. Brain Dev. 9 529-531. 

Guy J, Hendrich B, Holmes M, Martin JE, Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 2001 27 322-326. 

Rett Syndrome A Rosetta Stone for Understanding the Molecular Pathogenesis of Autism Janine M. LaSalle, Amber Hogart, and Karen N. Thatcher... 

Bokoch GM (2003) Biology of the p21-activated kinases. Annu Rev Biochem 72 743-781 Bredt DS, NicoU RA (2(X)3) AMPA receptor trafficking at excitatory synapses. Neuron 40 361—379 Chahrour M, Zoghbi HY (2007) The story of Rett syndrome from clinic to neurobiology. Neuron 56 422-437... 

Pan JW, Lane JB, Hetherington H, Percy AK (1999) Rett Syndrome H-1 spectroscopic imaging at + 1 Tesla. J Child Neurol 14 524-528... 

Facioscapulohumeral muscular dystrophy (FSHD) Fragile X-associated tremor/ ataxia syndrome (FXTAS) Prader-Willi syndrome, Rett syndrome Spinocerebellar atrophy type 8 (SCA8) Paraneoplastic neurological disorders (PND)... 

Rett syndrome is a neurodevelopmental disorder in females, which is characterized by loss of speech, stereotypical movements of hands, microcephaly, seizures, and... 

Balmer D, Arredondo J, Samaco RC, LaSaUe JM (2002) MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain. Hum Genet 110 545-552. 

Hammer S, Dorrani N, Dragich J, Kudo S, Schanen C (2002) The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome. Ment Retard Dev Disabil Res Rev 8 94-98. 

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