gamma-aminobutyric acid has been researched along with Neurofibromatosis 1 in 11 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.
Neurofibromatosis 1: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
| Excerpt | Relevance | Reference |
|---|---|---|
| "We found that patients with neurofibromatosis type 1 have significantly lower γ-aminobutyric acid levels than control subjects, and that neurofibromatosis type 1 mutation type significantly predicted cortical γ-aminobutyric acid." | 1.39 | GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact. ( Bernardino, I; Castelo-Branco, M; Cunha, G; Edden, RA; Guimarães, P; Rebola, J; Ribeiro, MJ; Silva, E; Violante, IR, 2013) |
| "Neurofibromatosis type 1 is one of the most common monogenic disorders causing cognitive deficits for which studies on a mouse model (Nfl(+/-)) proposed increased γ-aminobutyric acid-mediated inhibitory neurotransmission as the neural mechanism underlying these deficits." | 1.39 | GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact. ( Bernardino, I; Castelo-Branco, M; Cunha, G; Edden, RA; Guimarães, P; Rebola, J; Ribeiro, MJ; Silva, E; Violante, IR, 2013) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (27.27) | 29.6817 |
| 2010's | 6 (54.55) | 24.3611 |
| 2020's | 2 (18.18) | 2.80 |
| Authors | Studies |
|---|---|
| Lacroix, A | 1 |
| Proteau-Lemieux, M | 1 |
| Côté, S | 1 |
| Near, J | 1 |
| Hui, SCN | 1 |
| Edden, RAE | 1 |
| Lippé, S | 1 |
| Çaku, A | 1 |
| Corbin, F | 1 |
| Lepage, JF | 1 |
| Garg, S | 1 |
| Williams, S | 1 |
| Jung, J | 1 |
| Pobric, G | 1 |
| Nandi, T | 1 |
| Lim, B | 1 |
| Vassallo, G | 1 |
| Green, J | 1 |
| Evans, DG | 1 |
| Stagg, CJ | 1 |
| Parkes, LM | 1 |
| Stivaros, S | 1 |
| Violante, IR | 3 |
| Ribeiro, MJ | 2 |
| Edden, RA | 2 |
| Guimarães, P | 1 |
| Bernardino, I | 3 |
| Rebola, J | 2 |
| Cunha, G | 1 |
| Silva, E | 1 |
| Castelo-Branco, M | 3 |
| Zimerman, M | 1 |
| Wessel, MJ | 1 |
| Timmermann, JE | 1 |
| Granström, S | 1 |
| Gerloff, C | 1 |
| Mautner, VF | 1 |
| Hummel, FC | 1 |
| Patricio, M | 1 |
| Abrunhosa, AJ | 1 |
| Ferreira, N | 1 |
| Cui, Y | 1 |
| Costa, RM | 2 |
| Murphy, GG | 2 |
| Elgersma, Y | 1 |
| Zhu, Y | 1 |
| Gutmann, DH | 1 |
| Parada, LF | 1 |
| Mody, I | 1 |
| Silva, AJ | 3 |
| Shilyansky, C | 1 |
| Karlsgodt, KH | 1 |
| Cummings, DM | 1 |
| Sidiropoulou, K | 1 |
| Hardt, M | 1 |
| James, AS | 1 |
| Ehninger, D | 1 |
| Bearden, CE | 1 |
| Poirazi, P | 1 |
| Jentsch, JD | 1 |
| Cannon, TD | 1 |
| Levine, MS | 1 |
| Pérez Villena, A | 1 |
| Duat Rodríguez, A | 1 |
| García Peñas, JJ | 1 |
| López Pino, MA | 1 |
| Das, UN | 1 |
| Federov, NB | 1 |
| Kogan, JH | 1 |
| Stern, J | 1 |
| Ohno, M | 1 |
| Kucherlapati, R | 1 |
| Jacks, T | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Linking Inhibition From Molecular to Systems and Cognitive Levels: a Preclinical and Clinical Approach in Autism Spectrum Disorders and Neurofibromatosis.[NCT03826940] | 16 participants (Actual) | Interventional | 2019-02-19 | Completed | |||
| Trial to Evaluate the Safety of Lovastatin in Individuals With Neurofibromatosis Type I (NF1)[NCT00352599] | Phase 1 | 44 participants (Actual) | Interventional | 2009-09-30 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
1 review available for gamma-aminobutyric acid and Neurofibromatosis 1
| Article | Year |
|---|---|
Can memory be improved? A discussion on the role of ras, GABA, acetylcholine, NO, insulin, TNF-alpha, and long-chain polyunsaturated fatty acids in memory formation and consolidation.
Topics: Acetylcholine; Animals; Brain; Cognition; Fatty Acids, Unsaturated; gamma-Aminobutyric Acid; Humans; | 2003 |
1 trial available for gamma-aminobutyric acid and Neurofibromatosis 1
| Article | Year |
|---|---|
Non-invasive brain stimulation modulates GABAergic activity in neurofibromatosis 1.
Topics: Brain; gamma-Aminobutyric Acid; Humans; Neurofibromatosis 1; Prefrontal Cortex; Single-Blind Method; | 2022 |
9 other studies available for gamma-aminobutyric acid and Neurofibromatosis 1
| Article | Year |
|---|---|
Multimodal assessment of the GABA system in patients with fragile-X syndrome and neurofibromatosis of type 1.
Topics: Fragile X Syndrome; gamma-Aminobutyric Acid; Humans; Motor Cortex; Neural Inhibition; Neurofibromato | 2022 |
GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact.
Topics: Adolescent; Brain Chemistry; Child; Female; gamma-Aminobutyric Acid; Genotype; Humans; Magnetic Reso | 2013 |
Abnormal relationship between GABA, neurophysiology and impulsive behavior in neurofibromatosis type 1.
Topics: Adolescent; Attention; Brain; Child; Electroencephalography; Executive Function; Female; gamma-Amino | 2015 |
Impairment of Procedural Learning and Motor Intracortical Inhibition in Neurofibromatosis Type 1 Patients.
Topics: Adult; Female; gamma-Aminobutyric Acid; Humans; Learning; Long-Term Potentiation; Male; Middle Aged; | 2015 |
GABA deficiency in NF1: A multimodal [11C]-flumazenil and spectroscopy study.
Topics: Adult; Brain; Case-Control Studies; Cross-Sectional Studies; Female; Flumazenil; GABA Modulators; ga | 2016 |
Neurofibromin regulation of ERK signaling modulates GABA release and learning.
Topics: Animals; Extracellular Signal-Regulated MAP Kinases; Female; gamma-Aminobutyric Acid; Genes, Neurofi | 2008 |
Neurofibromin regulates corticostriatal inhibitory networks during working memory performance.
Topics: Animals; Behavior, Animal; Computer Simulation; Excitatory Postsynaptic Potentials; Female; gamma-Am | 2010 |
Plexiform neurofibroma in an 8 year-old patient.
Topics: Amines; Analgesics; Child; Cyclohexanecarboxylic Acids; Female; Gabapentin; gamma-Aminobutyric Acid; | 2013 |
Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1.
Topics: Animals; Disease Models, Animal; gamma-Aminobutyric Acid; Genes, ras; Hippocampus; In Vitro Techniqu | 2002 |