carnitine has been researched along with Friedreich Ataxia in 7 studies
Friedreich Ataxia: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
| Excerpt | Relevance | Reference |
|---|---|---|
| " Primary outcome measures were mitochondrial ATP production measured as phosphocreatine recovery by 31Phosphorus magnetic resonance spectroscopy, neurological deficits assessed by the international co-operative ataxia rating scale and cardiac hypertrophy in echocardiography." | 5.11 | L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial. ( Abele, M; Colier, WN; Klockgether, T; Kuntz-Hehner, S; Müller, K; Przuntek, H; Schillings, M; Schöls, L; Skipka, G; van Beekvelt, MC; Vorgerd, M; Zange, J, 2005) |
| "Friedreich's Ataxia is an autosomal recessive genetic disease causing the defective gene product, frataxin." | 2.72 | Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies. ( Gonzalez-Cabo, P; Lyakhovich, A; Pagano, G; Pallardó, FV; Rodríguez, LR; Trifuoggi, M, 2021) |
| "Although the Friedreich's ataxia phenotype results from decreased expression of a mitochondrially targeted protein, frataxin, mitochondrial myopathy has not been described as a feature of the disease." | 1.31 | Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report. ( Beinlich, BR; Gallagher, CL; Harding, CO; Pandolfo, M; Pauli, RM; Poirer, J; Salamat, MS; Waclawik, AJ, 2002) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (28.57) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (42.86) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 2 (28.57) | 2.80 |
| Authors | Studies |
|---|---|
| Wang, D | 1 |
| Ho, ES | 1 |
| Cotticelli, MG | 1 |
| Xu, P | 1 |
| Napierala, JS | 1 |
| Hauser, LA | 1 |
| Napierala, M | 1 |
| Himes, BE | 1 |
| Wilson, RB | 1 |
| Lynch, DR | 1 |
| Mesaros, C | 1 |
| Pallardó, FV | 1 |
| Pagano, G | 1 |
| Rodríguez, LR | 1 |
| Gonzalez-Cabo, P | 1 |
| Lyakhovich, A | 1 |
| Trifuoggi, M | 1 |
| Gallagher, CL | 1 |
| Waclawik, AJ | 1 |
| Beinlich, BR | 1 |
| Harding, CO | 1 |
| Pauli, RM | 1 |
| Poirer, J | 1 |
| Pandolfo, M | 1 |
| Salamat, MS | 1 |
| Schöls, L | 1 |
| Zange, J | 1 |
| Abele, M | 1 |
| Schillings, M | 1 |
| Skipka, G | 1 |
| Kuntz-Hehner, S | 1 |
| van Beekvelt, MC | 1 |
| Colier, WN | 1 |
| Müller, K | 1 |
| Klockgether, T | 1 |
| Przuntek, H | 1 |
| Vorgerd, M | 1 |
| Alizad, A | 1 |
| Seward, JB | 1 |
| Ngo, TT | 1 |
| Tunnicliff, G | 1 |
| Yam, CF | 1 |
| Charbonneau, M | 1 |
| Barbeau, A | 1 |
| Rabinovitch, MA | 1 |
| Kalff, V | 1 |
| Allen, R | 1 |
| Rosenthal, A | 1 |
| Albers, J | 1 |
| Das, SK | 1 |
| Pitt, B | 1 |
| Swanson, DP | 1 |
| Mangner, T | 1 |
| Rogers, WL | 1 |
2 reviews available for carnitine and Friedreich Ataxia
| Article | Year |
|---|---|
Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies.
Topics: Animals; Antioxidants; Carnitine; Deferiprone; Friedreich Ataxia; Humans; Iron Chelating Agents; Lin | 2021 |
Echocardiographic features of genetic diseases: part 1. Cardiomyopathy.
Topics: Arrhythmogenic Right Ventricular Dysplasia; Beckwith-Wiedemann Syndrome; Cardiomyopathies; Cardiomyo | 2000 |
1 trial available for carnitine and Friedreich Ataxia
| Article | Year |
|---|---|
L-carnitine and creatine in Friedreich's ataxia. A randomized, placebo-controlled crossover trial.
Topics: Adenosine Triphosphate; Adolescent; Adult; Cardiomegaly; Carnitine; Child; Creatine; Female; Friedre | 2005 |
4 other studies available for carnitine and Friedreich Ataxia
| Article | Year |
|---|---|
Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia.
Topics: 3-Hydroxybutyric Acid; Adenine; Carnitine; Ceramides; Coenzyme A; Fibroblasts; Friedreich Ataxia; Gu | 2022 |
Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report.
Topics: Adolescent; Autopsy; Biopsy; Carnitine; Disease Progression; DNA, Mitochondrial; Frataxin; Friedreic | 2002 |
The inhibition of human plasma acetylcholinesterase by some naturally occurring compounds.
Topics: Acetylcholinesterase; Adolescent; Adult; Carnitine; Child; Cholinesterase Inhibitors; Female; Friedr | 1978 |
omega-123I-hexadecanoic acid metabolic probe of cardiomyopathy.
Topics: Adolescent; Adult; Aged; Alcoholism; Atrial Fibrillation; Cardiomyopathies; Cardiomyopathy, Dilated; | 1985 |