gamma-aminobutyric acid has been researched along with Rett Syndrome in 26 studies
gamma-Aminobutyric Acid: The most common inhibitory neurotransmitter in the central nervous system.
gamma-aminobutyric acid : A gamma-amino acid that is butanoic acid with the amino substituent located at C-4.
Rett Syndrome: An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Mirtazapine was more effective than desipramine in restoring somatosensory cortex thickness by fully rescuing pyramidal neurons dendritic arborization and spine density." | 5.43 | Pharmacological treatment with mirtazapine rescues cortical atrophy and respiratory deficits in MeCP2 null mice. ( Baj, G; Bernareggi, A; Bittolo, T; Deiana, C; Ferrazzo, S; Raminelli, CA; Tongiorgi, E; Vaghi, V, 2016) |
| " A major debilitating phenotype in affected females is frequent apneas, and heterozygous Mecp2-deficient female mice mimic the human respiratory disorder." | 3.76 | Correction of respiratory disorders in a mouse model of Rett syndrome. ( Abdala, AP; Bissonnette, JM; Dutschmann, M; Paton, JF, 2010) |
| "Rett syndrome is a severe form of autism spectrum disorder, mainly caused by mutations of a single gene methyl CpG binding protein 2 (MeCP2) on the X chromosome." | 1.43 | KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome. ( Carromeu, C; Chen, G; Gage, FH; Kim, J; Marchetto, MC; Muotri, AR; Tang, X; Wengert, E; Wu, Z; Zhang, L; Zhou, L, 2016) |
| "Mirtazapine was more effective than desipramine in restoring somatosensory cortex thickness by fully rescuing pyramidal neurons dendritic arborization and spine density." | 1.43 | Pharmacological treatment with mirtazapine rescues cortical atrophy and respiratory deficits in MeCP2 null mice. ( Baj, G; Bernareggi, A; Bittolo, T; Deiana, C; Ferrazzo, S; Raminelli, CA; Tongiorgi, E; Vaghi, V, 2016) |
| "Rett syndrome is an autism-spectrum disorder resulting from mutations to the X-linked gene, methyl-CpG binding protein 2 (MeCP2), which causes abnormalities in many systems." | 1.40 | Alterations in the cholinergic system of brain stem neurons in a mouse model of Rett syndrome. ( Cui, N; Jiang, C; Johnson, CM; Oginsky, MF; Zhong, W, 2014) |
| "Rett syndrome is an autism spectrum disorder resulting from defects in the gene encoding the methyl-CpG-binding protein 2 (MeCP2)." | 1.39 | GABAergic synaptic inputs of locus coeruleus neurons in wild-type and Mecp2-null mice. ( Cui, N; Jiang, C; Jin, X; Jin, XT; Zhong, W, 2013) |
| "Rett syndrome is a severe neurodevelopmental disease caused by mutations of the transcriptional repressor methyl-CpG-binding protein 2 (MeCP2) that induce complex, disabling symptoms, including breathing symptoms." | 1.37 | The benzodiazepine Midazolam mitigates the breathing defects of Mecp2-deficient mice. ( Hilaire, G; Voituron, N, 2011) |
| "Rett syndrome is characterized by apparently normal early development followed by regression, motor abnormalities, seizures and features of autism, especially stereotyped behaviours." | 1.36 | Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. ( Chahrour, M; Chao, HT; Chen, H; Ekker, M; Gong, S; Heintz, N; Lu, HC; Neul, JL; Noebels, JL; Rosenmund, C; Rubenstein, JL; Samaco, RC; Xue, M; Yoo, J; Zoghbi, HY, 2010) |
| "Rett syndrome is a neurodevelopmental disorder caused by mutations in the transcriptional repressor methyl-CpG-binding protein 2 (MeCP2) and represents the leading genetic cause for mental retardation in girls." | 1.35 | Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome. ( Aramuni, G; Dudanova, I; Medrihan, L; Missler, M; Sargsyan, V; Tantalaki, E; Zhang, W, 2008) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (3.85) | 18.2507 |
| 2000's | 3 (11.54) | 29.6817 |
| 2010's | 18 (69.23) | 24.3611 |
| 2020's | 4 (15.38) | 2.80 |
| Authors | Studies |
|---|---|
| Milla, BM | 1 |
| Dong, Q | 1 |
| Kim, J | 2 |
| Nguyen, L | 1 |
| Bu, Q | 1 |
| Chang, Q | 1 |
| Johnson, CM | 3 |
| Cui, N | 4 |
| Xing, H | 2 |
| Wu, Y | 1 |
| Jiang, C | 4 |
| Faisthalab, Z | 1 |
| Chen, CY | 1 |
| Di Lucente, J | 1 |
| Lin, YC | 1 |
| Lien, CC | 1 |
| Rogawski, MA | 1 |
| Maezawa, I | 1 |
| Jin, LW | 1 |
| Lozovaya, N | 1 |
| Nardou, R | 1 |
| Tyzio, R | 1 |
| Chiesa, M | 1 |
| Pons-Bennaceur, A | 1 |
| Eftekhari, S | 1 |
| Bui, TT | 1 |
| Billon-Grand, M | 1 |
| Rasero, J | 1 |
| Bonifazi, P | 1 |
| Guimond, D | 1 |
| Gaiarsa, JL | 1 |
| Ferrari, DC | 1 |
| Ben-Ari, Y | 1 |
| Zhang, W | 2 |
| Peterson, M | 1 |
| Beyer, B | 1 |
| Frankel, WN | 1 |
| Zhang, ZW | 1 |
| El-Khoury, R | 1 |
| Panayotis, N | 1 |
| Matagne, V | 2 |
| Ghata, A | 1 |
| Villard, L | 2 |
| Roux, JC | 2 |
| Ma, LY | 1 |
| Wu, C | 1 |
| Jin, Y | 1 |
| Gao, M | 1 |
| Li, GH | 1 |
| Turner, D | 1 |
| Shen, JX | 1 |
| Zhang, SJ | 1 |
| Narayanan, V | 1 |
| Jentarra, G | 1 |
| Wu, J | 1 |
| Oginsky, MF | 1 |
| Zhong, W | 2 |
| Tang, X | 1 |
| Zhou, L | 1 |
| Wengert, E | 1 |
| Zhang, L | 1 |
| Wu, Z | 1 |
| Carromeu, C | 1 |
| Muotri, AR | 1 |
| Marchetto, MC | 1 |
| Gage, FH | 1 |
| Chen, G | 1 |
| Bittolo, T | 1 |
| Raminelli, CA | 1 |
| Deiana, C | 1 |
| Baj, G | 1 |
| Vaghi, V | 1 |
| Ferrazzo, S | 1 |
| Bernareggi, A | 1 |
| Tongiorgi, E | 1 |
| Ehinger, Y | 1 |
| Saidi, L | 1 |
| Borges-Correia, A | 1 |
| Barkats, M | 1 |
| Bartoli, M | 1 |
| Krishnan, K | 1 |
| Lau, BY | 1 |
| Ewall, G | 1 |
| Huang, ZJ | 1 |
| Shea, SD | 1 |
| Kline, DD | 1 |
| Ogier, M | 1 |
| Kunze, DL | 1 |
| Katz, DM | 1 |
| Abdala, AP | 1 |
| Dutschmann, M | 1 |
| Bissonnette, JM | 1 |
| Paton, JF | 1 |
| Chao, HT | 1 |
| Chen, H | 1 |
| Samaco, RC | 1 |
| Xue, M | 1 |
| Chahrour, M | 1 |
| Yoo, J | 1 |
| Neul, JL | 1 |
| Gong, S | 1 |
| Lu, HC | 1 |
| Heintz, N | 1 |
| Ekker, M | 1 |
| Rubenstein, JL | 1 |
| Noebels, JL | 1 |
| Rosenmund, C | 1 |
| Zoghbi, HY | 1 |
| Voituron, N | 1 |
| Hilaire, G | 1 |
| Ghanizadeh, A | 1 |
| Baroncelli, L | 1 |
| Braschi, C | 1 |
| Spolidoro, M | 1 |
| Begenisic, T | 1 |
| Maffei, L | 1 |
| Sale, A | 1 |
| Coghlan, S | 1 |
| Horder, J | 1 |
| Inkster, B | 1 |
| Mendez, MA | 1 |
| Murphy, DG | 1 |
| Nutt, DJ | 1 |
| Jin, X | 1 |
| Jin, XT | 1 |
| Horike, S | 1 |
| Cai, S | 1 |
| Miyano, M | 1 |
| Cheng, JF | 1 |
| Kohwi-Shigematsu, T | 1 |
| Pescucci, C | 1 |
| Meloni, I | 1 |
| Renieri, A | 1 |
| Medrihan, L | 1 |
| Tantalaki, E | 1 |
| Aramuni, G | 1 |
| Sargsyan, V | 1 |
| Dudanova, I | 1 |
| Missler, M | 1 |
| Sasaki, T | 1 |
| Minagawa, M | 1 |
| Yamamoto, T | 1 |
| Ichihashi, H | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| A Randomised, Double-Blind, Placebo-Controlled 6-month Study to Evaluate the Efficacy, Safety, and Tolerability of Sarizotan in Patients With Rett Syndrome With Respiratory Symptoms[NCT02790034] | Phase 2/Phase 3 | 129 participants (Actual) | Interventional | 2016-10-26 | Terminated (stopped due to The study did not demonstrate evidence of efficacy on the primary or secondary efficacy variables) | ||
| Magnetic Resonance Imaging of the Brain in Children With Autism Spectrum Disorder (ASD)[NCT05758220] | 25 participants (Anticipated) | Observational [Patient Registry] | 2023-04-01 | Not yet recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
"Caregiver-rated Impression of Change (CIC): 7-point scale requiring the caregiver to rate how much the patient's illness has improved or worsened relative to the baseline state.~7-point Likert-type scale for which ratings range from 1 = very much improved to 7 = very much worse, with 4 = no change. This caregiver-rated measure considered activities, behavior, mood and functioning. This rating was performed in consultation with the study Investigator but was based largely on the caregivers' evaluation during the reporting period. The single rating of the CIC was to be based on changes in the following domains: • Activities (watching TV, interest in conversations around her, cooperation during toileting, dressing/bathing, etc.), • Communication (verbal or by eye movements, hand movements, or head movements), • Behavior (agitation, refusal to feed, scratching, social avoidance), • Participation in family/outdoor/social events)" (NCT02790034)
Timeframe: 24 weeks
| Intervention | score on a scale (Mean) |
|---|---|
| Sarizotan Low Dose | 3.6 |
| Sarizotan High Dose | 3.5 |
| Placebo | 3.4 |
Measured as the percent change in the number of apnea episodes per hour during awake time, calculated using an ambulatory data acquisition system (BioRadioTM) as part of home monitoring procedure. BioRadioTM record specific respiratory and cardiac parameters. (NCT02790034)
Timeframe: Baseline up to week 24
| Intervention | % of change in mean counts per hr (Least Squares Mean) |
|---|---|
| Sarizotan Low Dose | 1.54 |
| Sarizotan High Dose | 13.211 |
| Placebo | 18.503 |
2 reviews available for gamma-aminobutyric acid and Rett Syndrome
| Article | Year |
|---|---|
Brain plasticity and disease: a matter of inhibition.
Topics: Autistic Disorder; Brain; Down Syndrome; gamma-Aminobutyric Acid; Humans; Neural Inhibition; Neurona | 2011 |
GABA system dysfunction in autism and related disorders: from synapse to symptoms.
Topics: Brain; Child; Child Development Disorders, Pervasive; Fragile X Syndrome; GABAergic Neurons; gamma-A | 2012 |
24 other studies available for gamma-aminobutyric acid and Rett Syndrome
| Article | Year |
|---|---|
Loss of MeCP2 increases GABA uptake by astrocytes to suppress tonic inhibition of CA1 pyramidal neurons.
Topics: Astrocytes; GABA Plasma Membrane Transport Proteins; gamma-Aminobutyric Acid; Humans; Methyl-CpG-Bin | 2021 |
An Astrocytic Influence on Impaired Tonic Inhibition in Hippocampal CA1 Pyramidal Neurons in a Mouse Model of Rett Syndrome.
Topics: Animals; Astrocytes; CA1 Region, Hippocampal; GABA Plasma Membrane Transport Proteins; gamma-Aminobu | 2020 |
The antitussive cloperastine improves breathing abnormalities in a Rett Syndrome mouse model by blocking presynaptic GIRK channels and enhancing GABA release.
Topics: Animals; Antitussive Agents; Brain Stem; Dose-Response Relationship, Drug; Female; G Protein-Coupled | 2020 |
Dual synaptic inhibitions of brainstem neurons by GABA and glycine with impact on Rett syndrome.
Topics: Animals; Bicuculline; Brain Stem; Female; GABA-A Receptor Antagonists; gamma-Aminobutyric Acid; Glut | 2021 |
Defective GABAergic neurotransmission in the nucleus tractus solitarius in Mecp2-null mice, a model of Rett syndrome.
Topics: Animals; Disease Models, Animal; GABA-A Receptor Agonists; gamma-Aminobutyric Acid; Inhibitory Posts | 2018 |
Early alterations in a mouse model of Rett syndrome: the GABA developmental shift is abolished at birth.
Topics: Animals; Bumetanide; gamma-Aminobutyric Acid; Methyl-CpG-Binding Protein 2; Mice; Mice, Inbred C57BL | 2019 |
Loss of MeCP2 from forebrain excitatory neurons leads to cortical hyperexcitation and seizures.
Topics: Animals; Electroencephalography; gamma-Aminobutyric Acid; Immunohistochemistry; Male; Methyl-CpG-Bin | 2014 |
GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient mice.
Topics: Animals; Blotting, Western; Brain; Cells, Cultured; GABA Agonists; gamma-Aminobutyric Acid; Gene Exp | 2014 |
Electrophysiological phenotypes of MeCP2 A140V mutant mouse model.
Topics: Action Potentials; Animals; Disease Models, Animal; gamma-Aminobutyric Acid; Glutamic Acid; Hippocam | 2014 |
Alterations in the cholinergic system of brain stem neurons in a mouse model of Rett syndrome.
Topics: Acetylcholine; Adaptation, Physiological; Animals; Cholinergic Neurons; Disease Models, Animal; Exci | 2014 |
KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome.
Topics: Animals; Cells, Cultured; gamma-Aminobutyric Acid; Humans; Induced Pluripotent Stem Cells; Male; Met | 2016 |
Pharmacological treatment with mirtazapine rescues cortical atrophy and respiratory deficits in MeCP2 null mice.
Topics: Animals; Antidepressive Agents; Atrophy; Breath Tests; Cerebral Cortex; Desipramine; GABAergic Neuro | 2016 |
A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome.
Topics: Amines; Animals; Apnea; Codon; Cyclohexanecarboxylic Acids; Dependovirus; Disease Models, Animal; Di | 2017 |
MECP2 regulates cortical plasticity underlying a learned behaviour in adult female mice.
Topics: Animals; Cerebral Cortex; Female; gamma-Aminobutyric Acid; Humans; Learning; Male; Maternal Behavior | 2017 |
Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice.
Topics: Action Potentials; Animals; Brain-Derived Neurotrophic Factor; Disease Models, Animal; Evoked Potent | 2010 |
Correction of respiratory disorders in a mouse model of Rett syndrome.
Topics: Animals; Apnea; Disease Models, Animal; Female; GABA Antagonists; gamma-Aminobutyric Acid; Male; Met | 2010 |
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.
Topics: Animals; Autistic Disorder; Brain; Compulsive Behavior; Disease Models, Animal; Electroencephalograp | 2010 |
The benzodiazepine Midazolam mitigates the breathing defects of Mecp2-deficient mice.
Topics: Animals; Benzodiazepines; Disease Models, Animal; GABA Agonists; gamma-Aminobutyric Acid; Methyl-CpG | 2011 |
May GABA transaminase inhibitors improve stereotyped behaviors in Rett syndrome?
Topics: 4-Aminobutyrate Transaminase; Enzyme Inhibitors; GABA Agents; gamma-Aminobutyric Acid; Humans; Rett | 2012 |
GABAergic synaptic inputs of locus coeruleus neurons in wild-type and Mecp2-null mice.
Topics: Animals; Baclofen; Female; GABA Antagonists; GABA-A Receptor Agonists; GABA-B Receptor Agonists; GAB | 2013 |
Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome.
Topics: Animals; Chromatin; Chromosomal Proteins, Non-Histone; CpG Islands; DNA Methylation; DNA-Binding Pro | 2005 |
Is Rett syndrome a loss-of-imprinting disorder?
Topics: Animals; Chromatin; Chromosomal Proteins, Non-Histone; DNA-Binding Proteins; gamma-Aminobutyric Acid | 2005 |
Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome.
Topics: Animals; Brain Stem; Disease Models, Animal; Efferent Pathways; Excitatory Postsynaptic Potentials; | 2008 |
A case of the Rett syndrome with acute encephalopathy induced during calcium hopantenate treatment.
Topics: Acute Disease; Blood Glucose; Brain Diseases; Carboxylic Acids; Child, Preschool; Female; gamma-Amin | 1991 |