Rett Syndrome: A Timely Review From Recognition to Current Clinical Approaches and Clinical Study Updates

Seminars in Pediatric Neurology - Tập 37 - Trang 100881 - 2021
Autumn S. Ivy1,2, SM Standridge3,4
1Division of Child Neurology, Children's Hospital Orange County, Orange, CA
2Departments of Pediatrics and Neurology, University of California- Irvine School of Medicine, Irvine, CA
3Cincinnati Children's Hospital Medical Center, Division of Neurology, Cincinnati, OH
4University of Cincinnati, College of Medicine, Department of Pediatrics, Cincinnati, OH

Tài liệu tham khảo

Rett, 1966, [On an unusual brain atrophy syndrome in hyperammonemia in childhood], Wien Med Wochenschr, 116, 723 Hagberg, 1983, A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases, Ann Neurol, 14, 471, 10.1002/ana.410140412 Amir, 1999, Rett syndrome is caused by mutations in X-linked MECP2, encoding methylCpG-binding protein 2, Nat Genet, 23, 185, 10.1038/13810 Chahrour, 2007, The story of Rett syndrome: From clinic to neurobiology, Neuron, 56, 422, 10.1016/j.neuron.2007.10.001 Sandweiss, 2020, Advances in understanding of Rett syndrome and MECP2 duplication syndrome: Prospects for future therapies, The Lancet. Neurology, 19, 689, 10.1016/S1474-4422(20)30217-9 Kaur, S. & J. Christodoulou, MECP2 disorders. In: GeneReviews(®)Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews, University of Washington; 1993-2020. Guy, 2011, The role of MeCP2 in the brain, Annu Rev Cell Dev Biol, 27, 631, 10.1146/annurev-cellbio-092910-154121 Lewis, 1992, Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA, Cell, 69, 905, 10.1016/0092-8674(92)90610-O Nan, 1997, MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin, Cell, 88, 471, 10.1016/S0092-8674(00)81887-5 Chahrour, 2008, MeCP2, a key contributor to neurological disease, activates and represses transcription, Science, 320, 1224, 10.1126/science.1153252 Jones, 2012, Functions of DNA methylation: Islands, start sites, gene bodies and beyond, Nat Rev Genet, 13 Krishnaraj, 2017, RettBASE: Rett syndrome database update, Hum Mutat, 38, 922, 10.1002/humu.23263 Guo, 2014, Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain, Nat Neurosci, 17, 215, 10.1038/nn.3607 Lister, 2013, Global epigenomic reconfiguration during mammalian brain development, Science (New York, N.Y.), 341, 10.1126/science.1237905 Shahbazian, 2002, Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation, Hum Mol Genet, 11, 115, 10.1093/hmg/11.2.115 Chen, 2015, MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome, Proc Natl Acad Sci U S A, 112 Lavery, 2019, The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis, Curr Opin Neurobiol, 59, 180, 10.1016/j.conb.2019.08.001 Baker, 2013, An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders, Cell, 152, 984, 10.1016/j.cell.2013.01.038 Connolly, 2019, Genomic insights into MeCP2 function: A role for the maintenance of chromatin architecture, Curr Opin Neurobiol, 59, 174, 10.1016/j.conb.2019.07.002 Bellini, 2014, MeCP2 post-translational modifications: A mechanism to control its involvement in synaptic plasticity and homeostasis?, Front Cell Neurosci, 8, 236, 10.3389/fncel.2014.00236 Guy, 2001, A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome, Nat Genet, 27, 322, 10.1038/85899 Chen, 2001, Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice, Nat Genet, 27, 327, 10.1038/85906 Fukuda, 2005, Delayed maturation of neuronal architecture and synaptogenesis in cerebral cortex of Mecp2-deficient mice, J Neuropathol Exp Neurol, 64, 537, 10.1093/jnen/64.6.537 Chapleau, 2009, Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations, Neurobiol Dis, 35, 219, 10.1016/j.nbd.2009.05.001 Marchetto, 2010, A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells, Cell, 143, 527, 10.1016/j.cell.2010.10.016 Asaka, 2006, Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome, Neurobiol Dis, 21, 217, 10.1016/j.nbd.2005.07.005 El-Khoury, 2014, GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient mice, PLoS One, 9, e92169, 10.1371/journal.pone.0092169 McGraw, 2011, Adult neural function requires MeCP2, Science (New York, N.Y.), 333, 186, 10.1126/science.1206593 Guy, 2007, Reversal of neurological defects in a mouse model of Rett syndrome, Science (New York, N.Y.), 315, 1143, 10.1126/science.1138389 Robinson, 2012, Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome, Brain, 135, 2699, 10.1093/brain/aws096 Ross, 2016, Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes, Hum Mol Genet, 25, 4389 Caballero, 2005, MeCP2 in neurons: closing in on the causes of Rett syndrome, Hum Mol Genet, 14, R19, 10.1093/hmg/ddi102 Neul, 2008, Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome, Neurology, 70, 1313, 10.1212/01.wnl.0000291011.54508.aa Bebbington, 2010, Updating the profile of C-terminal MECP2 deletions in Rett syndrome, J Med Genet, 47, 242, 10.1136/jmg.2009.072553 Cuddapah, 2014, Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome, J Med Genet, 51, 152, 10.1136/jmedgenet-2013-102113 Archer, 2007, Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X chromosome inactivation, J Med Genet, 44, 148, 10.1136/jmg.2006.045260 Tarquinio, 2017, Longitudinal course of epilepsy in Rett syndrome and related disorders, Brain, 140, 306, 10.1093/brain/aww302 Tarquinio, 2018, The course of awake breathing disturbances across the lifespan in Rett syndrome, Brain Dev, 40, 515, 10.1016/j.braindev.2018.03.010 Lombardi, 2015, MECP2 disorders: From the clinic to mice and back, J Clin Invest, 125, 2914, 10.1172/JCI78167 Armstrong, 2005, Neuropathology of Rett syndrome, J Child Neurol, 20, 747, 10.1177/08830738050200082401 Kron, 2012, Brain activity mapping in Mecp2 mutant mice reveals functional deficits in forebrain circuits, including key nodes in the default mode network, that are reversed with ketamine treatment, J Neurosci, 32, 13860, 10.1523/JNEUROSCI.2159-12.2012 Shepherd, 2011, Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: Focus on Mecp2 and Met, Curr Opin Neurobiol, 21, 827, 10.1016/j.conb.2011.06.006 Zhang, 2008, The MeCP2-null mouse hippocampus displays altered basal inhibitory rhythms and is prone to hyperexcitability, Hippocampus, 18, 294, 10.1002/hipo.20389 Wood, 2010, Synaptic circuit abnormalities of motor-frontal layer 2/3 pyramidal neurons in a mutant mouse model of Rett syndrome, Neurobiol Dis, 38, 281, 10.1016/j.nbd.2010.01.018 Dani, 2009, Intact long-term potentiation but reduced connectivity between neocortical layer 5 pyramidal neurons in a mouse model of Rett syndrome, J Neurosci, 29, 10.1523/JNEUROSCI.1019-09.2009 Maezawa, 2010, Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate, J Neurosci, 30, 5346, 10.1523/JNEUROSCI.5966-09.2010 Maezawa, 2009, Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions, J Neurosci, 29, 5051, 10.1523/JNEUROSCI.0324-09.2009 Nguyen, 2013, Oligodendrocyte lineage cells contribute unique features to Rett syndrome neuropathology, J Neurosci, 33, 18764, 10.1523/JNEUROSCI.2657-13.2013 Calfa, 2011, Experimental models of Rett syndrome based on Mecp2 dysfunction, Exp Biol Med (Maywood), 236, 3, 10.1258/ebm.2010.010261 Ghosh, 1994, Requirement for BDNF in activity-dependent survival of cortical neurons, Science, 263, 1618, 10.1126/science.7907431 Poo, 2001, Neurotrophins as synaptic modulators, Nat Rev Neurosci, 2, 24, 10.1038/35049004 Chang, 2006, The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression, Neuron, 49, 341, 10.1016/j.neuron.2005.12.027 Larimore, 2009, Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations, Neurobiol Dis, 34, 199, 10.1016/j.nbd.2008.12.011 Chapleau, 2013, Recent progress in Rett syndrome and MeCP2 dysfunction: Assessment of potential treatment options, Future Neurol, 8, 10.2217/fnl.12.79 Cuddapah, 2015, MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives, Degener Neurol Neuromuscul Dis, 5, 103 Wenk, 1997, Rett syndrome: Neurobiological changes underlying specific symptoms, Prog Neurobiol, 51, 383, 10.1016/S0301-0082(96)00059-7 Maliszewska-Cyna, 2010, Diminished prevalence but preserved synaptic distribution of N-methyl-D-aspartate receptor subunits in the methyl CpG binding protein 2(MeCP2)-null mouse brain, Neuroscience, 168, 624, 10.1016/j.neuroscience.2010.03.065 Chao, 2010, Dysfunction in GABA signaling mediates autism-like stereotypies and Rett syndrome phenotypes, Nature, 468, 263, 10.1038/nature09582 Meng, 2016, Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders, Elife, 5, 10.7554/eLife.14199 Can, 2019, Neuronal redox-imbalance in rett syndrome affects mitochondria as well as cytosol, and is accompanied by intensified mitochondrial O (2) consumption and ROS release, Front Physiol, 10, 479, 10.3389/fphys.2019.00479 Jagtap, 2019, Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome, Hum Mol Genet, 28, 3625, 10.1093/hmg/ddz208 Grosser, 2012, Oxidative burden and mitochondrial dysfunction in a mouse model of Rett syndrome, Neurobiol Dis, 48, 102, 10.1016/j.nbd.2012.06.007 Katz, 2016, Rett syndrome: Crossing the threshold to clinical translation, Trends Neurosci, 39, 100, 10.1016/j.tins.2015.12.008 Kaufmann, 2016, Neurobiologically-based treatments in Rett syndrome: Opportunities and challenges, Expert Opin Orphan Drugs, 4 Gomathi, 2020, Drug studies on Rett syndrome: From bench to bedside, J Autism Dev Disord, 50, 2740, 10.1007/s10803-020-04381-y Su, 2016, The sigma-1 receptor as a pluripotent modulator in living systems, Trends Pharmacol Sci, 37, 262, 10.1016/j.tips.2016.01.003 Kaufmann, 2019, ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome, Pharmacol Biochem Behav, 187, 10.1016/j.pbb.2019.172796 Banerjee, 2019, Towards a better diagnosis and treatment of Rett syndrome: A model synaptic disorder, Brain, 142, 239, 10.1093/brain/awy323 Devinsky, 2016, Cannabidiol in patients with treatment-resistant epilepsy - Authors' reply, Lancet Neurol, 15, 545, 10.1016/S1474-4422(16)00120-4 Devinsky, 2016, Cannabidiol in patients with treatment-resistant epilepsy: An open-label interventional trial, Lancet Neurol, 15, 270, 10.1016/S1474-4422(15)00379-8 Ibeas Bih, 2015, Molecular targets of cannabidiol in neurological disorders, Neurotherapeutics, 12, 699, 10.1007/s13311-015-0377-3 Vigli, 2018, Chronic treatment with the phytocannabinoid Cannabidivarin (CBDV) rescues behavioural alterations and brain atrophy in a mouse model of Rett syndrome, Neuropharmacology, 140, 121, 10.1016/j.neuropharm.2018.07.029 Lu, 2009, NNZ-2566, a glypromate analog, attenuates brain ischemia-induced non-convulsive seizures in rats, J Cereb Blood Flow Metab, 29, 1924, 10.1038/jcbfm.2009.109 Wei, 2009, NNZ-2566 treatment inhibits neuroinflammation and pro-inflammatory cytokine expression induced by experimental penetrating ballistic-like brain injury in rats, J Neuroinflammation, 6, 19, 10.1186/1742-2094-6-19 Tropea, 2009, Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice, Proc Natl Acad Sci USA, 106, 2029, 10.1073/pnas.0812394106 Glaze, 2019, Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome, Neurology, 92, 1912, 10.1212/WNL.0000000000007316 Patrizi, 2016, Chronic administration of N-Methyl-D-Aspartate receptor antagonist ketamine improves Rett syndrome phenotype, Biol Psychiatry, 79, 755, 10.1016/j.biopsych.2015.08.018 Katz, 2016, N-Methyl-D-Aspartate receptors, ketamine, and Rett syndrome: Something special on the road to treatments?, Biol Psychiatry, 79, 710, 10.1016/j.biopsych.2016.03.1045 Heard, 2004, Recent advances in X-chromosome inactivation, Curr Opin Cell Biol, 16, 247, 10.1016/j.ceb.2004.03.005 Gray, 2011, Preclinical differences of intravascular AAV9 delivery to neurons and glia: A comparative study of adult mice and nonhuman primates, Mol Ther, 19, 1058, 10.1038/mt.2011.72 Giacometti, 2007, Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2, Proc Natl Acad Sci U S A, 104, 1931, 10.1073/pnas.0610593104 Luikenhuis, 2004, Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice, Proc Natl Acad Sci U S A, 101, 6033, 10.1073/pnas.0401626101 Derecki, 2012, Wild-type microglia arrest pathology in a mouse model of Rett syndrome, Nature, 484, 105, 10.1038/nature10907 Lioy, 2011, A role for glia in the progression of Rett's syndrome, Nature, 475, 497, 10.1038/nature10214 Keeling, 2014, Therapeutics based on stop codon readthrough, Annu Rev Genomics Hum Genet, 15, 371, 10.1146/annurev-genom-091212-153527 Gadalla, 2013, Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice, Mol Ther, 21, 18, 10.1038/mt.2012.200 Duque, 2009, Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons, Mol Ther, 17, 1187, 10.1038/mt.2009.71 Fu, 2020, Consensus guidelines on managing Rett syndrome across the lifespan, BMJ Paediatrics Open, 4, 10.1136/bmjpo-2020-000717 Kumandas, 2001, Lamotrigine in two cases of Rett syndrome, Brain Dev, 23, 240, 10.1016/S0387-7604(01)00191-7 Uldall, 1993, Lamotrigine in Rett syndrome, Neuropediatrics, 24, 339, 10.1055/s-2008-1071568 Pintaudi, 2015, Antiepileptic drugs in Rett syndrome, Eur J Paediatr Neurol, 19, 446, 10.1016/j.ejpn.2015.02.007 Goyal, 2004, Effect of topiramate on seizures and respiratory dysrhythmia in Rett syndrome, J Child Neurol, 19, 588, 10.1177/088307380401900804 Krajnc, 2014, Severe respiratory dysrhythmia in Rett syndrome treated with topiramate, J Child Neurol, 29, 10.1177/0883073813508313 Haas, 1986, Therapeutic effects of a ketogenic diet in Rett syndrome, Am J Med Genet Suppl, 1, 225, 10.1002/ajmg.1320250525 Liebhaber, 2003, Ketogenic diet in Rett syndrome, J Child Neurol, 18, 74, 10.1177/08830738030180011801 Mantis, 2009, Improvement in motor and exploratory behavior in Rett syndrome mice with restricted ketogenic and standard diets, Epilepsy Behav, 15, 133, 10.1016/j.yebeh.2009.02.038 Barchel, 2019, Oral cannabidiol use in children with autism spectrum disorder to treat related symptoms and co-morbidities, Front Pharmacol, 9, 10.3389/fphar.2018.01521 Poleg, 2019, Cannabidiol as a suggested candidate for treatment of autism spectrum disorder, Prog Neuropsychopharmacol Biol Psychiatry, 89, 90, 10.1016/j.pnpbp.2018.08.030 Chin, 2019, Behavioral characterization of MeCP2 dysfunction-associated Rett syndrome and neuropsychiatric disorders, Methods Mol Biol, 2011, 593, 10.1007/978-1-4939-9554-7_34 Katz, 2009, Breathing disorders in Rett syndrome: Progressive neurochemical dysfunction in the respiratory network after birth, Respir Physiol Neurobiol, 168, 101, 10.1016/j.resp.2009.04.017 Ramirez, 2013, Breathing challenges in Rett Syndrome: Lessons learned from humans and animal models, Respir Physiol Neurobiol, 189, 280, 10.1016/j.resp.2013.06.022 Barnes, 2015, Anxiety-like behavior in Rett syndrome: Characteristics and assessment by anxiety scales, J Neurodev Disord, 7, 30, 10.1186/s11689-015-9127-4 Buchanan, 2019, Behavioral profiles in Rett syndrome: Data from the natural history study, Brain Dev, 41, 123, 10.1016/j.braindev.2018.08.008 Brücke, 1987, Reduced concentrations and increased metabolism of biogenic amines in a single case of Rett-syndrome: a postmortem brain study, J Neural Transm, 68, 315, 10.1007/BF02098506 Samaco, 2009, Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities, Proc Natl Acad Sci U S A, 106, 21966, 10.1073/pnas.0912257106 De Filippis, 2014, Pharmacological stimulation of the brain serotonin receptor 7 as a novel therapeutic approach for Rett syndrome, Neuropsychopharmacology, 39, 2506, 10.1038/npp.2014.105 Toward, 2013, Increasing brain serotonin corrects CO2 chemosensitivity in methyl-CpG-binding protein 2 (Mecp2)-deficient mice, Exp Physiol, 98, 842, 10.1113/expphysiol.2012.069872 Gökben, 2012, Use of buspirone and fluoxetine for breathing problems in Rett syndrome, Pediatr Neurol, 46, 192, 10.1016/j.pediatrneurol.2011.12.003 Ohno K, et al: Effect of serotonin 1A agonists and selective serotonin reuptake inhibitors on behavioral and nighttime respiratory symptoms in Rett syndrome. Pediatric Neurol 60:5459.e51, 2016