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Rett syndrome

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https://www.readbyqxmd.com/read/29341476/a-rare-male-patient-with-classic-rett-syndrome-caused-by-mecp2_e1-mutation
#1
Narumi Tokaji, Hiromichi Ito, Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi, Aya Goji, Tatsuo Mori, Yoshihiro Toda, Masako Saito, Shoichiro Tange, Kiyoshi Masuda, Shoji Kagami, Issei Imoto
Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss-of-function mutations that affect the coding sequence of exon 3 or 4 of methyl-CpG-binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29333487/activation-of-the-medial-prefrontal-cortex-reverses-cognitive-and-respiratory-symptoms-in-a-mouse-model-of-rett-syndrome
#2
C James Howell, Michael P Sceniak, Min Lang, Wenceslas Krakowiecki, Fatimah E Abouelsoud, Saloni U Lad, Heping Yu, David M Katz
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2; Amir et al., 1999), a transcriptional regulatory protein (Klose et al., 2005). Mouse models of RTT (Mecp2 mutants) exhibit excitatory hypoconnectivity in the medial prefrontal cortex (mPFC; Sceniak et al., 2015), a region critical for functions that are abnormal in RTT patients, ranging from learning and memory to regulation of visceral homeostasis (Riga et al...
November 2017: ENeuro
https://www.readbyqxmd.com/read/29332766/cognitive-function-in-rett-syndrome-profoundly-impaired-or-near-normal
#3
EDITORIAL
Gunter Loffler, Gael E Gordon
No abstract text is available yet for this article.
January 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29329583/correction-to-dendrimer-mediated-delivery-of-n-acetyl-cysteine-to-microglia-in-a-mouse-model-of-rett-syndrome
#4
Elizabeth Nance, Siva P Kambhampati, Elizabeth S Smith, Zhi Zhang, Fan Zhang, Sarabdeep Singh, Michael V Johnston, Rangaramanujam M Kannan, Mary E Blue, Sujatha Kannan
After publication of the article [1], it has been brought to our attention that an author's name has been formatted incorrectly.
January 12, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29327725/whole-genome-sequencing-reveals-principles-of-brain-retrotransposition-in-neurodevelopmental-disorders
#5
Jasmine Jacob-Hirsch, Eran Eyal, Binyamin A Knisbacher, Jonathan Roth, Karen Cesarkas, Chen Dor, Sarit Farage-Barhom, Vered Kunik, Amos J Simon, Moran Gal, Michal Yalon, Sharon Moshitch-Moshkovitz, Rick Tearle, Shlomi Constantini, Erez Y Levanon, Ninette Amariglio, Gideon Rechavi
Neural progenitor cells undergo somatic retrotransposition events, mainly involving L1 elements, which can be potentially deleterious. Here, we analyze the whole genomes of 20 brain samples and 80 non-brain samples, and characterized the retrotransposition landscape of patients affected by a variety of neurodevelopmental disorders including Rett syndrome, tuberous sclerosis, ataxia-telangiectasia and autism. We report that the number of retrotranspositions in brain tissues is higher than that observed in non-brain samples and even higher in pathologic vs normal brains...
January 12, 2018: Cell Research
https://www.readbyqxmd.com/read/29322350/monogenic-disorders-that-mimic-the-phenotype-of-rett-syndrome
#6
Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naidu
Rett syndrome (RTT) is caused by mutations in methyl-CpG-binding protein 2 (MECP2), but defects in a handful of other genes (e.g., CDKL5, FOXG1, MEF2C) can lead to presentations that resemble, but do not completely mirror, classical RTT. In this study, we attempted to identify other monogenic disorders that share features with RTT. We performed a retrospective chart review on n = 319 patients who had undergone clinical whole exome sequencing (WES) for further etiological evaluation of neurodevelopmental diagnoses that remained unexplained despite extensive prior workup...
January 10, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29321672/phenotypic-interpretation-of-complex-chromosomal-rearrangements-informed-by-nucleotide-level-resolution-and-structural-organization-of-chromatin
#7
Cinthya J Zepeda-Mendoza, Alexandra Bardon, Tammy Kammin, David J Harris, Helen Cox, Claire Redin, Zehra Ordulu, Michael E Talkowski, Cynthia C Morton
Molecular characterization of balanced chromosomal abnormalities constitutes a powerful tool in understanding the pathogenic mechanisms of complex genetic disorders. Here we report a male with severe global developmental delay in the presence of a complex karyotype and normal microarray and exome studies. The subject, referred to as DGAP294, has two de novo apparently balanced translocations involving chromosomes 1 and 14, and chromosomes 4 and 10, disrupting several different transcripts of adhesion G protein-coupled receptor L2 (ADGRL2) and protocadherin 15 (PCDH15)...
January 10, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29321033/environmental-enrichment-intervention-for-rett-syndrome-an-individually-randomised-stepped-wedge-trial
#8
Jenny Downs, Jenny Rodger, Chen Li, Xuesong Tan, Nan Hu, Kingsley Wong, Nicholas de Klerk, Helen Leonard
BACKGROUND: Rett syndrome is caused by a pathogenic mutation in the MECP2 gene with major consequences for motor and cognitive development. One of the effects of impaired MECP2 function is reduced production of Brain Derived Neurotrophic Factor (BDNF), a protein required for normal neuronal development. When housed in an enriched environment, MECP2 null mice improved motor abilities and increased levels of BDNF in the brain. We investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome...
January 10, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29313799/astrocytic-modulation-of-excitatory-synaptic-signaling-in-a-mouse-model-of-rett-syndrome
#9
Benjamin Rakela, Paul Brehm, Gail Mandel
Studies linking mutations in Methyl CpG Binding Protein 2 (MeCP2) to physiological defects in the neurological disease, Rett syndrome, have focused largely upon neuronal dysfunction despite MeCP2 ubiquitous expression. Here we explore roles for astrocytes in neuronal network function using cortical slice recordings. We find that astrocyte stimulation in wild-type mice increases excitatory synaptic activity that is absent in male mice lacking MeCP2 globally. To determine the cellular basis of the defect, we exploit a female mouse model for Rett syndrome that expresses wild-type MeCP2-GFP in a mosaic distribution throughout the brain, allowing us to test all combinations of wild-type and mutant cells...
January 9, 2018: ELife
https://www.readbyqxmd.com/read/29286317/motor-somatosensory-viscerosensory-and-metabolic-impairments-in-a-heterozygous-female-rat-model-of-rett-syndrome
#10
Aritra Bhattacherjee, Michelle K Winter, Linda S Eggimann, Ying Mu, Sumedha Gunewardena, Zhaohui Liao, Julie A Christianson, Peter G Smith
Rett Syndrome (RTT), an autism-related disorder caused by mutation of the X-linked Methyl CpG-binding Protein 2 (MECP2) gene, is characterized by severe cognitive and intellectual deficits. While cognitive deficits are well-documented in humans and rodent models, impairments of sensory, motor and metabolic functions also occur but remain poorly understood. To better understand non-cognitive deficits in RTT, we studied female rats heterozygous for Mecp2 mutation (Mecp2-/x); unlike commonly used male Mecp2-/y rodent models, this more closely approximates human RTT where males rarely survive...
December 29, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29282321/a-mixed-modality-approach-towards-xi-reactivation-for-rett-syndrome-and-other-x-linked-disorders
#11
Lieselot L G Carrette, Chen-Yu Wang, Chunyao Wei, William Press, Weiyuan Ma, Raymond J Kelleher, Jeannie T Lee
The X-chromosome harbors hundreds of disease genes whose associated diseases predominantly affect males. However, a subset, including neurodevelopmental disorders, Rett syndrome (RTT), fragile X syndrome, and CDKL5 syndrome, also affects females. These disorders lack disease-specific treatment. Because female cells carry two X chromosomes, an emerging treatment strategy has been to reawaken the healthy allele on the inactive X (Xi). Here, we focus on methyl-CpG binding protein 2 (MECP2) restoration for RTT and combinatorially target factors in the interactome of Xist, the noncoding RNA responsible for X inactivation...
December 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29274121/brain-metabolic-sensing-and-metabolic-signaling-at-the-level-of-an-astrocyte
#12
Nephtali Marina, Egor Turovsky, Isabel N Christie, Patrick S Hosford, Anna Hadjihambi, Alla Korsak, Richard Ang, Svetlana Mastitskaya, Shahriar Sheikhbahaei, Shefeeq M Theparambil, Alexander V Gourine
Astrocytes support neuronal function by providing essential structural and nutritional support, neurotransmitter trafficking and recycling and may also contribute to brain information processing. In this article we review published results and report new data suggesting that astrocytes function as versatile metabolic sensors of central nervous system (CNS) milieu and play an important role in the maintenance of brain metabolic homeostasis. We discuss anatomical and functional features of astrocytes that allow them to detect and respond to changes in the brain parenchymal levels of metabolic substrates (oxygen and glucose), and metabolic waste products (carbon dioxide)...
December 23, 2017: Glia
https://www.readbyqxmd.com/read/29258545/dendrimer-mediated-delivery-of-n-acetyl-cysteine-to-microglia-in-a-mouse-model-of-rett-syndrome
#13
Elizabeth Nance, Siva P Kambhampati, Elizabeth S Smith, Zhi Zhang, Fan Zhang, Sarabdeep Singh, Michael V Johnston, Kannan Rangaramanujam, Mary E Blue, Sujatha Kannan
BACKGROUND: Rett syndrome (RTT) is a pervasive developmental disorder that is progressive and has no effective cure. Immune dysregulation, oxidative stress, and excess glutamate in the brain mediated by glial dysfunction have been implicated in the pathogenesis and worsening of symptoms of RTT. In this study, we investigated a new nanotherapeutic approach to target glia for attenuation of brain inflammation/injury both in vitro and in vivo using a Mecp2-null mouse model of Rett syndrome...
December 19, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29233794/relevance-of-4-f4t-neuroprostane-and-10-f4t-neuroprostane-to-neurological-diseases
#14
Cinzia Signorini, Claudio De Felice, Thierry Durand, Jean-Marie Galano, Camille Oger, Silvia Leoncini, Lucia Ciccoli, Marisa Carone, Monica Ulivelli, Caterina Manna, Alessio Cortelazzo, Jetty Chung-Yung Lee, Joussef Hayek
F4-neuroprostanes (F4-NeuroPs) are non-enzymatic oxidized products derived from docosahexaenoic acid (DHA) and are suggested to be oxidative damage biomarkers of neurological diseases. However, 128 isomers can be formed from DHA oxidation and among them, 4(RS)-4-F4t-NeuroP (4-F4t-NeuroP) and 10(RS)-10-F4t-NeuroP (10-F4t-NeuroP) are the most studied. Here, we report the identification and the clinical relevance of 4-F4t-NeuroP and 10-F4t-NeuroP in plasma of four different neurological diseases, including multiple sclerosis (MS), autism spectrum disorders, (ASD) Rett syndrome (RTT), and Down syndrome (DS)...
December 9, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29227625/genetic-reduction-or-negative-modulation-of-mglu7-does-not-impact-anxiety-and-fear-learning-phenotypes-in-a-mouse-model-of-mecp2-duplication-syndrome
#15
Nicole M Fisher, Rocco G Gogliotti, Sheryl Anne D Vermudez, Branden J Stansley, P Jeffrey Conn, Colleen M Niswender
Rett syndrome and MECP2 Duplication syndrome are neurodevelopmental disorders attributed to loss-of-function mutations in, or duplication of, the gene encoding Methyl-CpG-Binding Protein 2 (MeCP2), respectively. We recently reported decreased expression and function of the metabotropic glutamate receptor 7 (mGlu7) in a mouse model of Rett syndrome. Positive allosteric modulation of mGlu7 activity was sufficient to improve several disease phenotypes including cognition. Here, we tested the hypothesis that mGlu7 expression would be reciprocally regulated in a mouse model of MECP2 Duplication syndrome, such that negative modulation of mGlu7 activity would exert therapeutic benefit...
December 11, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29214702/skin-injuries-and-joint-contractures-of-the-upper-extremities-in-rett-syndrome
#16
D Hirano, T Taniguchi
OBJECTIVES: The purpose of this study was to investigate the incidence and type of skin injuries and joint contractures of the upper extremities in individuals with Rett syndrome. METHODS: In 2016, a questionnaire regarding skin injuries and joint contractures was sent to 1016 directors of schools for special needs education and 204 directors of departments of rehabilitation [consisting of 130 facilities for persons with severe motor and intellectual disabilities (SMID), 73 wards for patients with SMID, and the National Hospital Organisation and National Centre Hospital, National Centre of Neurology and Psychiatry] in Japan...
January 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29213044/-the-course-and-development-of-epilepsy-in-patients-with-typical-variant-of-rett-syndrome-and-mutations
#17
M Yu Bobylova, I V Ivanova, I V Nekrasova, O A Pylaeva, K Yu Mukhin, A A Kholin, Ek S Iljina, A V Kulikov, El S Iljina, Yu E Nesterovsky
AIM: To study the anamnesis, clinical state, electro-encephalographic and brain MRI characteristics in patients with Rett syndrome (МЕСР2) and epilepsy. MATERIAL AND METHODS: Eleven female patients, aged from 3 to 23 years, with Rett syndrome and MeCP2 mutations were studied. The study continued for 10 years (2006-2015). Assessment of neurological and mental status, night sleep video-EEG monitoring, MRI were performed. RESULTS AND CONCLUSION: Epilepsy was diagnosed in six cases (54...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29206688/current-developments-in-the-genetics-of-rett-and-rett-like-syndrome
#18
Friederike Ehrhart, Nasim Bahram Sangani, Leopold M G Curfs
PURPOSE OF REVIEW: This article reviews the current molecular genetic studies, which investigate the genetic causes of Rett syndrome or Rett-like phenotypes without a classical MECP2 mutation. RECENT FINDINGS: As next generation sequencing becomes broadly available, especially whole exome sequencing is used in clinical diagnosis of the genetic causes of a wide spectrum of intellectual disability, autism, and encephalopathies. Patients who were diagnosed with Rett syndrome or Rett-like syndrome because of their phenotype but were negative for mutations in the MECP2, CDKL5 or FOXG1 genes were subjected to whole exome sequencing and the results of the last few years revealed yet 69 different genes...
December 4, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/29203410/breathing-disturbances-in-a-model-of-rett-syndrome-a-potential-involvement-of-the-glycine-receptor-%C3%AE-3-subunit
#19
Guillaume Mesuret, Julia Dannenberg, Mauricio Arnoldt, Anja-Annett Grützner, Marcus Niebert, Swen Hülsmann
The glycine receptor α3 subunit is known to be a target for cAMP/PKA-mediated phosphorylation and regulation. Mice that lack this subunit are apparently normal but the 5-HT1A-receptor mediated modulation of respiratory network activity is disturbed. Since the intracellular cAMP-concentration is reduced in mice that lack the transcriptional modulator methyl-CpG-binding protein 2 (MeCP2) gene, we aimed to test if the α3 subunit of the glycine receptor is involved in the development of the breathing phenotype of MeCP2-deficient mice (Mecp2-/y)...
December 1, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/29194024/adapting-the-mullen-scales-of-early-learning-for-a-standardized-measure-of-development-in-children-with-rett-syndrome
#20
Tessa Clarkson, Jocelyn LeBlanc, Geneva DeGregorio, Vanessa Vogel-Farley, Katherine Barnes, Walter E Kaufmann, Charles A Nelson
Rett Syndrome (RTT) is characterized by severe impairment in fine motor (FM) and expressive language (EL) function, making accurate evaluations of development difficult with standardized assessm ents. In this study, the administration and scoring of the Mullen Scales of Early Learning (MSEL) were adapted to eliminate the confounding effects of FM and EL impairments in assessing development. Forty-seven girls with RTT were assessed with the Adapted-MSEL (MSEL-A), a subset (n = 30) was also assessed using the Vineland Adaptive Behavior Scales-Second Edition (Vineland-II) and a further subset (n = 17) was assessed using an eye-tracking version of the MSEL (MSEL-ET)...
December 2017: Intellectual and Developmental Disabilities
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