thioctic acid has been researched along with Dystonia in 1 studies
Thioctic Acid: An octanoic acid bridged with two sulfurs so that it is sometimes also called a pentanoic acid in some naming schemes. It is biosynthesized by cleavage of LINOLEIC ACID and is a coenzyme of oxoglutarate dehydrogenase (KETOGLUTARATE DEHYDROGENASE COMPLEX). It is used in DIETARY SUPPLEMENTS.
Dystonia: An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
Excerpt | Relevance | Reference |
---|---|---|
"Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an extremely rare autosomal recessive mitochondrial disease caused by biallelic mutations in MECR." | 1.62 | Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy. ( Fang, F; Liu, Z; Lv, J; Murayama, K; Ogawa-Tominaga, M; Shi, W; Shimura, M; Wang, J; Wang, X; Zhang, L; Zhang, VW; Zhang, W, 2021) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 1 (100.00) | 2.80 |
Authors | Studies |
---|---|
Liu, Z | 1 |
Shimura, M | 1 |
Zhang, L | 1 |
Zhang, W | 1 |
Wang, J | 2 |
Ogawa-Tominaga, M | 1 |
Wang, X | 1 |
Lv, J | 1 |
Shi, W | 1 |
Zhang, VW | 1 |
Murayama, K | 1 |
Fang, F | 1 |
1 other study available for thioctic acid and Dystonia
Article | Year |
---|---|
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
Topics: Basal Ganglia; Cells, Cultured; Child; China; Crystallography, X-Ray; Dystonia; Exome Sequencing; Ho | 2021 |