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https://www.readbyqxmd.com/read/28935912/neurological-disorders-reversing-rett-syndrome
#1
Sarah Crunkhorn
No abstract text is available yet for this article.
September 22, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/28935587/glutamatergic-synapses-in-neurodevelopmental-disorders
#2
REVIEW
Edoardo Moretto, Luca Murru, Giuseppe Martano, Jenny Sassone, Maria Passafaro
Neurodevelopmental disorders (NDDs) are a group of diseases whose symptoms arise during childhood or adolescence and that impact several higher cognitive functions such as learning, sociability and mood. Accruing evidence suggests that a shared pathogenic mechanism underlying these diseases is the dysfunction of glutamatergic synapses. We summarize present knowledge on autism spectrum disorders (ASD), intellectual disability (ID), Down syndrome (DS), Rett syndrome (RS) and attention-deficit hyperactivity disorder (ADHD), highlighting the involvement of glutamatergic synapses and receptors in these disorders...
September 18, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28931890/pathogenesis-of-lethal-aspiration-pneumonia-in-mecp2-null-mouse-model-for-rett-syndrome
#3
Hiroshi Kida, Tomoyuki Takahashi, Yuki Nakamura, Takashi Kinoshita, Munetsugu Hara, Masaki Okamoto, Satoko Okayama, Keiichiro Nakamura, Ken-Ichiro Kosai, Takayuki Taniwaki, Yushiro Yamashita, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the gene encoding the transcriptional regulator Methyl-CpG-binding protein 2 (MeCP2), located on the X chromosome. Many RTT patients have breathing abnormalities, such as apnea and breathing irregularity, and respiratory infection is the most common cause of death in these individuals. Previous studies showed that MeCP2 is highly expressed in the lung, but its role in pulmonary function remains unknown. In this study, we found that MeCP2 deficiency affects pulmonary gene expression and structures...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28931647/randomized-open-label-trial-of-dextromethorphan-in-rett-syndrome
#4
Constance L Smith-Hicks, Siddharth Gupta, Joshua B Ewen, Manisha Hong, Lisa Kratz, Richard Kelley, Elaine Tierney, Rebecca Vaurio, Genila Bibat, Abanti Sanyal, Gayane Yenokyan, Nga Brereton, Michael V Johnston, Sakkubai Naidu
OBJECTIVE: To determine safety and perform a preliminary assessment of dose-dependent efficacy of dextromethorphan in normalizing electrographic spikes, clinical seizures, and behavioral and cognitive functions in girls with Rett syndrome. METHODS: We used a prospective randomized, open-label trial in fast metabolizers of dextromethorphan to examine the effect of dextromethorphan on core clinical features of Rett syndrome. Interictal spike activity and clinical seizures were determined using EEG and parent reporting...
September 20, 2017: Neurology
https://www.readbyqxmd.com/read/28927958/defective-gabaergic-neurotransmission-in-the-nucleus-tractus-solitarius-in-mecp2-null-mice-a-model-of-rett-syndrome
#5
Chao-Yin Chen, Jacopo Di Lucente, Yen-Chu Lin, Cheng-Chang Lien, Michael A Rogawski, Izumi Maezawa, Lee-Way Jin
Rett syndrome (RTT) is a devastating neurodevelopmental disorder caused by loss-of-function mutations in the X-linked methyl-CpG binding protein 2 (Mecp2) gene. GABAergic dysfunction has been implicated contributing to the respiratory dysfunction, one major clinical feature of RTT. The nucleus tractus solitarius (NTS) is the first central site integrating respiratory sensory information that can change the nature of the reflex output. We hypothesized that deficiency in Mecp2 gene reduces GABAergic neurotransmission in the NTS...
September 16, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28920956/biotin-tagging-of-mecp2-in-mice-reveals-contextual-insights-into-the-rett-syndrome-transcriptome
#6
Brian S Johnson, Ying-Tao Zhao, Maria Fasolino, Janine M Lamonica, Yoon Jung Kim, George Georgakilas, Kathleen H Wood, Daniel Bu, Yue Cui, Darren Goffin, Golnaz Vahedi, Tae Hoon Kim, Zhaolan Zhou
Mutations in MECP2 cause Rett syndrome (RTT), an X-linked neurological disorder characterized by regressive loss of neurodevelopmental milestones and acquired psychomotor deficits. However, the cellular heterogeneity of the brain impedes an understanding of how MECP2 mutations contribute to RTT. Here we developed a Cre-inducible method for cell-type-specific biotin tagging of MeCP2 in mice. Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons...
September 18, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28911278/measurement-of-sedentary-behaviors-or-downtime-in-rett-syndrome
#7
Michelle Stahlhut, Kylie Hill, Anne-Marie Bisgaard, Anne Kjersgaard Jensen, Michaela Andersen, Helen Leonard, Jenny Downs
This study aimed to validate measures of sedentary time in individuals with Rett syndrome. Twenty-six individuals (median [IQR] age 16.0 (9.4-20.6) years) wore an activPAL accelerometer during video-taped activities and agreement was determined between sedentary time determined by the activPAL and observation. For 11 individuals (median [IQR] age 14.5 (11.5-25.6) years), linear regression was used to determine the relationship between sedentary time recorded on the modified Bouchard activity record diary card and measured using the activPAL...
October 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28894505/increased-mitochondrial-mass-and-cytosolic-redox-imbalance-in-hippocampal-astrocytes-of-a-mouse-model-of-rett-syndrome-subcellular-changes-revealed-by-ratiometric-imaging-of-jc-1-and-rogfp1-fluorescence
#8
Dörthe F Bebensee, Karolina Can, Michael Müller
Rett syndrome (RTT) is a neurodevelopmental disorder with mutations in the MECP2 gene. Mostly girls are affected, and an apparently normal development is followed by cognitive impairment, motor dysfunction, epilepsy, and irregular breathing. Various indications suggest mitochondrial dysfunction. In Rett mice, brain ATP levels are reduced, mitochondria are leaking protons, and respiratory complexes are dysregulated. Furthermore, we found in MeCP2-deficient mouse (Mecp2(-/y) ) hippocampus an intensified mitochondrial metabolism and ROS generation...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28870827/distinguishing-response-to-names-in-rett-and-mecp2-duplication-syndrome-an-erp-study-of-auditory-social-information-processing
#9
U Peters Sarika, Katzenstein Ashley, Jones Dorita, P Key Alexandra
Despite significant advances at the level of basic research, the characterization of higher-level processes in Rett and MECP2 Duplication syndrome remains understudied. In this pilot study, we assessed social-emotional information processing by testing whether children (ages 4-12 years) with Rett (n=9) and MECP2 Duplication syndrome (n=7) distinguished their own spoken name from other names. We hypothesized that own and familiar names would elicit more positive parietal P300 responses than unknown names, and that the groups would have different neural responses to these stimuli...
September 1, 2017: Brain Research
https://www.readbyqxmd.com/read/28857161/structural-and-functional-differences-in-the-barrel-cortex-of-mecp2-null-mice
#10
Li-Jen Lee, Vassiliy Tsytsarev, Reha S Erzurumlu
Functional deficits in sensory systems are commonly noted in neurodevelopmental disorders, such as the Rett syndrome (RTT). Defects in methyl CpG binding protein gene (MECP2) largely accounts for RTT. Manipulations of the Mecp2 gene in mice provide useful models to probe into various aspects of brain development associated with the RTT. In this study, we focused on the somatosensory cortical phenotype in the Bird mouse model of RTT. We used voltage-sensitive dye imaging (VSDi) to evaluate whisker sensory evoked activity in the barrel cortex of mice...
August 31, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28856709/gabbr2-mutations-determine-phenotype-in-rett-syndrome-and-epileptic-encephalopathy
#11
Yongjin Yoo, Jane Jung, Yoo-Na Lee, Youngha Lee, Hyosuk Cho, Eunjung Na, JeaYeok Hong, Eunjin Kim, Jin Sook Lee, Je Sang Lee, Chansik Hong, Sang-Yoon Park, Jinhong Wie, Kathryn Miller, Natasha Shur, Cheryl Clow, Roseànne S Ebel, Suzanne D DeBrosse, Lindsay B Henderson, Rebecca Willaert, Christopher Castaldi, Irina Tikhonova, Kaya Bilgüvar, Shrikant Mane, Ki Joong Kim, Yong Seung Hwang, Seok-Geun Lee, Insuk So, Byung Chan Lim, Hee-Jung Choi, Jae Young Seong, Yong Beom Shin, Hosung Jung, Jong-Hee Chae, Murim Choi
OBJECTIVE: Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly heterogeneous and overlapping clinical features often allocate patients into the boundary of the two conditions, complicating accurate diagnosis and appropriate medical interventions. Therefore, we investigated the specific molecular mechanism that allows an understanding of the pathogenesis and relationship of these two conditions...
August 30, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28851325/novel-foxg1-mutations-in-chinese-patients-with-rett-syndrome-or-rett-like-mental-retardation
#12
Qingping Zhang, Jiaping Wang, Jiarui Li, Xinhua Bao, Ying Zhao, Xiaoying Zhang, Liping Wei, Xiru Wu
BACKGROUND: We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR). METHODS: Four hundred and fifty-one patients were recruited, including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by a target capture method and verified by Sanger sequencing. RESULTS: Four FOXG1 mutations were detected in four patients (three with RTT and one with RTT-like MR), including one previously described mutation and three novel mutations...
August 29, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28838622/defining-hand-stereotypies-in-rett-syndrome-a-movement-disorders-perspective
#13
Marisela E Dy, Jeff L Waugh, Nutan Sharma, Heather O'Leary, Kush Kapur, Alissa M D'Gama, Mustafa Sahin, David K Urion, Walter E Kaufmann
INTRODUCTION: Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (RTT) but are difficult to characterize and quantify systematically. METHODS: We collected video on 27 girls (2-12 years of age) with classic RTT who participated in a mecasermin trial. The present study focused exclusively on video analyses, by reviewing two five-minute windows per subject to identify the two most common HS. Three raters with expertise in movement disorders independently rated the five-minute windows using standardized terminology to determine the level of agreement...
October 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28835516/an-rna-interference-screen-identifies-druggable-regulators-of-mecp2-stability
#14
Laura M Lombardi, Manar Zaghlula, Yehezkel Sztainberg, Steven A Baker, Tiemo J Klisch, Amy A Tang, Eric J Huang, Huda Y Zoghbi
Alterations in gene dosage due to copy number variation are associated with autism spectrum disorder, intellectual disability (ID), and other psychiatric disorders. The nervous system is so acutely sensitive to the dose of methyl-CpG-binding protein 2 (MeCP2) that even a twofold change in MeCP2 protein-either increased or decreased-results in distinct disorders with overlapping features including ID, autistic behavior, and severe motor dysfunction. Rett syndrome is caused by loss-of-function mutations in MECP2, whereas duplications spanning the MECP2 locus result in MECP2 duplication syndrome (MDS), which accounts for ~1% of X-linked ID...
August 23, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28818303/nkcc1-chloride-importer-antagonists-attenuate-many-neurological-and-psychiatric-disorders
#15
REVIEW
Yehezkel Ben-Ari
In physiological conditions, adult neurons have low intracellular Cl(-) [(Cl(-))I] levels underlying the γ-aminobutyric acid (GABA)ergic inhibitory drive. In contrast, neurons have high (Cl(-))I levels and excitatory GABA actions in a wide range of pathological conditions including spinal cord lesions, chronic pain, brain trauma, cerebrovascular infarcts, autism, Rett and Down syndrome, various types of epilepsies, and other genetic or environmental insults. The diuretic highly specific NKCC1 chloride importer antagonist bumetanide (PubChem CID: 2461) efficiently restores low (Cl(-))I levels and attenuates many disorders in experimental conditions and in some clinical trials...
August 14, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28815309/elimination-of-medically-intractable-epileptic-drop-attacks-following-endoscopic-total-corpus-callosotomy-in-rett-syndrome
#16
Keisuke Ueda, Sandeep Sood, Eishi Asano, Ajay Kumar, Aimee F Luat
INTRODUCTION: Rett syndrome is a neurodevelopmental genetic disorder, characterized by developmental delay, hand stereotypies, abnormal gait, and acquired microcephaly. Epilepsy is very common in Rett syndrome and can be medically intractable. It remains uncertain if a patient with epileptic drop attacks associated with this genetic disease can benefit from corpus callosotomy. CASE REPORT: We report an 8-year-old girl with Rett syndrome and medically intractable epileptic drop attacks who underwent endoscopic total corpus callosotomy without any complications that led to the successful elimination of her seizures...
August 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28814546/mglu7-potentiation-rescues-cognitive-social-and-respiratory-phenotypes-in-a-mouse-model-of-rett-syndrome
#17
Rocco G Gogliotti, Rebecca K Senter, Nicole M Fisher, Jeffrey Adams, Rocio Zamorano, Adam G Walker, Anna L Blobaum, Darren W Engers, Corey R Hopkins, J Scott Daniels, Carrie K Jones, Craig W Lindsley, Zixiu Xiang, P Jeffrey Conn, Colleen M Niswender
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. The cognitive impairments seen in mouse models of RTT correlate with deficits in long-term potentiation (LTP) at Schaffer collateral (SC)-CA1 synapses in the hippocampus. Metabotropic glutamate receptor 7 (mGlu7) is the predominant mGlu receptor expressed presynaptically at SC-CA1 synapses in adult mice, and its activation on GABAergic interneurons is necessary for induction of LTP. We demonstrate that pathogenic mutations in MECP2 reduce mGlu7 protein expression in brain tissue from RTT patients and in MECP2-deficient mouse models...
August 16, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28813484/d-cycloserine-improves-synaptic-transmission-in-an-animal-mode-of-rett-syndrome
#18
Elisa S Na, Héctor De Jesús-Cortés, Arlene Martinez-Rivera, Zeeba D Kabir, Jieqi Wang, Vijayashree Ramesh, Yasemin Onder, Anjali M Rajadhyaksha, Lisa M Monteggia, Andrew A Pieper
Rett syndrome (RTT), a leading cause of intellectual disability in girls, is predominantly caused by mutations in the X-linked gene MECP2. Disruption of Mecp2 in mice recapitulates major features of RTT, including neurobehavioral abnormalities, which can be reversed by re-expression of normal Mecp2. Thus, there is reason to believe that RTT could be amenable to therapeutic intervention throughout the lifespan of patients after the onset of symptoms. A common feature underlying neuropsychiatric disorders, including RTT, is altered synaptic function in the brain...
2017: PloS One
https://www.readbyqxmd.com/read/28796949/mecp2-and-ctcf-enhancing-the-cross-talk-of-silencers
#19
Juan Ausio, Philippe T Georgel
This paper provides a brief introductory review of the most recent advances in our knowledge about structural and functional aspects of two transcriptional regulators: the methyl-CpG protein binding 2 (MeCP2), a protein whose mutated forms are involved in Rett syndrome and CCCTC-binding factor (CTCF), a constitutive transcriptional insulator. This is followed by a description of the post-translational modifications (PTMs) affecting these two proteins and an analysis of their known interacting partners. A special emphasis is placed on the recent studies connecting these two proteins focusing on the still poorly understood potential structural and functional interactions between the two of them on the chromatin substrate...
August 10, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28794905/further-clinical-delineation-of-the-mef2c-haploinsufficiency-syndrome-report-on-new-cases-and-literature-review-of-severe-neurodevelopmental-disorders-presenting-with-seizures-absent-speech-and-involuntary-movements
#20
REVIEW
Irena Vrečar, Josie Innes, Elizabeth A Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton-Smith, Sofia Douzgou
Mutations in the MEF2C ( myocyte enhancer factor 2 ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenotypic overlap with Rett's and Angelman's syndromes has been noted. Following the first reports of 5q14.3q15 microdeletions encompassing the MEF2C gene, further cases with point mutations and partial gene deletions of the MEF2C gene have been described. We present the clinical phenotype of our cohort of six patients with MEF2C mutations and compare our findings with previously reported patients as well as with a growing number of genetic conditions presenting with a severe neurodevelopmental, Rett-like, phenotype...
September 2017: Journal of Pediatric Genetics
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