gamma-aminobutyric acid has been researched along with Machado-Joseph Disease in 2 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.
Machado-Joseph Disease: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3, the most common dominant spinocerebellar ataxia (SCA) worldwide, is caused by over-repetition of a CAG repeat in the ATXN3/MJD1 gene, which translates into a polyglutamine tract within the ataxin-3 protein." | 1.48 | Repeated Mesenchymal Stromal Cell Treatment Sustainably Alleviates Machado-Joseph Disease. ( Alves, J; Alves, V; Barata, J; Barros, I; Castelhano, J; Castelo-Branco, M; Duarte, S; Gomes, C; Marcelo, A; Nobre, RJ; Nóbrega, C; Nunes-Correia, I; Oliveira Miranda, C; Paiva, VH; Pereira de Almeida, L; Pereira, D; Petrella, LI; Rodrigues-Santos, P; Sereno, J; Silva, TP; Vasconcelos-Ferreira, A, 2018) |
| "SCA3 or Machado-Joseph disease (MJD) is the commonest dominant inherited ataxia disease, with pathological phenotypes apparent with a CAG triplet repeat length of 61-84." | 1.32 | Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3. ( Cemal, CK; Griffin, JL; Pook, MA, 2004) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (50.00) | 29.6817 |
| 2010's | 1 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Oliveira Miranda, C | 1 |
| Marcelo, A | 1 |
| Silva, TP | 1 |
| Barata, J | 1 |
| Vasconcelos-Ferreira, A | 1 |
| Pereira, D | 1 |
| Nóbrega, C | 1 |
| Duarte, S | 1 |
| Barros, I | 1 |
| Alves, J | 1 |
| Sereno, J | 1 |
| Petrella, LI | 1 |
| Castelhano, J | 1 |
| Paiva, VH | 1 |
| Rodrigues-Santos, P | 1 |
| Alves, V | 1 |
| Nunes-Correia, I | 1 |
| Nobre, RJ | 1 |
| Gomes, C | 1 |
| Castelo-Branco, M | 1 |
| Pereira de Almeida, L | 1 |
| Griffin, JL | 1 |
| Cemal, CK | 1 |
| Pook, MA | 1 |
2 other studies available for gamma-aminobutyric acid and Machado-Joseph Disease
| Article | Year |
|---|---|
Repeated Mesenchymal Stromal Cell Treatment Sustainably Alleviates Machado-Joseph Disease.
Topics: Animals; Ataxin-3; gamma-Aminobutyric Acid; Glutamic Acid; Machado-Joseph Disease; Male; Mesenchymal | 2018 |
Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3.
Topics: Animals; Ataxin-3; Brain; Cerebellum; Choline; Disease Models, Animal; gamma-Aminobutyric Acid; Gluc | 2004 |