alpha-tocotrienol quinone

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Description

alpha-tocotrienol quinone: reverses visual loss due to retinal ganglion degeneration [Medical Subject Headings (MeSH), National Library of Medicine, extracted Dec-2023]

Cross-References

ID Source	ID
PubMed CID	46184405
CHEMBL ID	1812161
SCHEMBL ID	503125
SCHEMBL ID	14639355
MeSH ID	M0577028

Synonyms (40)

Synonym
vatiquinone ,
epi-743
CHEMBL1812161
(r)-alpha-tocotrienol quinone
alpha tocotrienol quinone
alpha-tocotrienol quinone
.alpha.-tocotrienol quinone
6o85fk9i0x ,
2,5-cyclohexadiene-1,4-dione, 2-((3r,6e,10e)-3-hydroxy-3,7,11,15-tetramethyl-6,10,14-hexadecatrien-1-yl)-3,5,6-trimethyl-
vatiquinone [usan:inn]
epi 743
1213269-98-7
unii-6o85fk9i0x
vatiquinone (jan/usan)
D10407
ptc-743
vatiquinone [inn]
2-[(3r,6e,10e)-3-hydroxy-3,7,11,15-tetramethylhexadeca-6,10,14-trien-1-yl]-3,5,6-trimethylcyclohexa-2,5-diene-1,4-dione
vatiquinone [jan]
vatiquinone [usan]
ptc743
SCHEMBL503125
SCHEMBL14639355
DTXSID90153231
CS-0012384
HY-16772
DB11917
epi 743;epi743; vatiquinone; alpha-tocotrienol quinone
BCP21072
2-((r,6e,10e)-3-hydroxy-3,7,11,15-tetramethylhexadeca-6,10,14-trien-1-yl)-3,5,6-trimethylcyclohexa-2,5-diene-1,4-dione
LNOVHERIIMJMDG-XZXLULOTSA-N
Q27265220
2-[(3r,6e,10e)-3-hydroxy-3,7,11,15-tetramethylhexadeca-6,10,14-trienyl]-3,5,6-trimethylcyclohexa-2,5-diene-1,4-dione
MS-27922
EX-A5566
2-[(3r,6e,10e)-3-hydroxy-3,7,11,15-tetramethyl-6,10,14-hexadecatrien-1-yl]-3,5,6-trimethyl-2,5-cyclohexadiene-1,4-dion
A937320
bdbm594069
us11584728, compound vatiquinone
AKOS040754343

[information is derived through text-mining from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Bioassays (62)

Assay ID	Title	Year	Journal	Article
AID611206	Volume of infusion in rat plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611408	Ratio of compound EC50 to co-enzyme Q10 EC50 for cytoprotectant activity in Friedreich ataxia patient fibroblasts	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611310	Cmax in mouse brain at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611323	Drug level in dog cornea at 300 mg/kg/day, po qd for 7 days	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611215	AUCt in rat plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611205	Clearance in rat plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611333	Prolongation of prothrombin time in rat at 100 mg/kg/day, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611314	Terminal half life in mouse brain at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611212	Bioavailability in fasted rat plasma at 25 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611228	AUCt in dog plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611321	Drug level in mouse heart at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611227	Tmax in dog plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611231	Cmax in mouse plasma at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611313	AUC (infinity) in mouse brain at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611319	Drug level in mouse serum at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611230	Terminal half life in dog plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611332	Toxicity in rat administered orally once daily for 28 days	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611322	Drug level in dog retina at 300 mg/kg/day, po qd for 7 days	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611334	Prolongation of activated partial thromboplastin time in rat at 100 mg/kg/day, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611217	Terminal half life in rat plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611316	Tmax in human plasma at 2 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611225	Apparent volume of distribution in dog plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611210	Tmax in rat plasma at 25 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611309	Terminal half life in mouse plasma at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611219	AUCt in dog plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611220	AUC (infinity) in dog plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611202	AUCt in rat plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611308	AUC (infinity) in mouse plasma at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611221	Terminal half life in dog plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611312	AUCt in mouse brain at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611404	Cytoprotectant activity against L-buthionine-(S,R)-sulfoximine-induced cell death in Friedreich ataxia patient fibroblasts assessed as increase of cell viability	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611209	Cmax in rat plasma at 25 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611336	Prolongation of activated partial thromboplastin time in dog at 100 mg/kg/day, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611223	Volume of infusion in dog plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611226	Cmax in dog plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611315	Cmax in human plasma at 2 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611233	AUCt in mouse plasma at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611213	Cmax in rat plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611232	Tmax in mouse plasma at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611214	Tmax in rat plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611204	Terminal half life in rat plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611406	Cytoprotectant activity against L-buthionine-(S,R)-sulfoximine-induced cell death in Leigh syndrome patient fibroblasts assessed as increase of cell viability	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611330	Genotoxicity in CHO cells assessed as induction of micronucleus	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611311	Tmax in mouse brain at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611324	Plasma concentration in dog at 300 mg/kg/day, po qd for 7 days	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611329	Mutagenic activity in Salmonella Typhimurium by Ames test	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611224	Volume of distribution at steady state in dog plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611203	AUC (infinity) in rat plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611211	AUCt in rat plasma at 25 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611207	Volume of distribution at steady state in rat plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611218	Bioavailability in fed rat plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611222	Clearance in dog plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611410	Ratio of compound EC50 to resveratrol EC50 for cytoprotectant activity in Friedreich ataxia patient fibroblasts	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611317	Bioavailability in dog plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611335	Prolongation of prothrombin time in dog at 100 mg/kg/day, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611229	AUC (infinity) in dog plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611216	AUC (infinity) in rat plasma at 10 mg/kg, po	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611320	Ratio of drug level in mouse heart to serum at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611318	Ratio of drug level in mouse brain to serum at 25 mg/kg, ip	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611331	Toxicity in dog administered orally once daily for 28 days	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611208	Apparent volume of distribution in rat plasma at 2 mg/kg, iv	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
AID611409	Ratio of compound EC50 to idebenone EC50 for cytoprotectant activity in Friedreich ataxia patient fibroblasts	2011	Bioorganic & medicinal chemistry letters, Jun-15, Volume: 21, Issue:12	α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging.
[information is prepared from bioassay data collected from National Library of Medicine (NLM), extracted Dec-2023]

Research

Studies (14)

Timeframe	Studies, This Drug (%)	All Drugs %
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	14 (100.00)	24.3611
2020's	0 (0.00)	2.80
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Market Indicators

Research Demand Index: 16.75

According to the monthly volume, diversity, and competition of internet searches for this compound, as well the volume and growth of publications, there is estimated to be moderate demand-to-supply ratio for research on this compound.

Metric	This Compound (vs All)
Research Demand Index	16.75 (24.57)
Research Supply Index	2.94 (2.92)
Research Growth Index	4.51 (4.65)
Search Engine Demand Index	10.37 (26.88)
Search Engine Supply Index	2.00 (0.95)

This Compound (16.75)

All Compounds (24.57)

Study Types

Publication Type	This drug (%)	All Drugs (%)
Trials	3 (20.00%)	5.53%
Reviews	4 (26.67%)	6.00%
Case Studies	2 (13.33%)	4.05%
Observational	0 (0.00%)	0.25%
Other	6 (40.00%)	84.16%
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Substance	Relationship Strength	Studies	Trials	Classes	Roles
creatine [no description available]	3.18	1	0	glycine derivative; guanidines; zwitterion	geroprotector; human metabolite; mouse metabolite; neuroprotective agent; nutraceutical
lactic acid Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed). 2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.	2.17	1	0	2-hydroxy monocarboxylic acid	algal metabolite; Daphnia magna metabolite
idebenone [no description available]	5.86	4	0	1,4-benzoquinones; primary alcohol	antioxidant; ferroptosis inhibitor
arginine Arginine: An essential amino acid that is physiologically active in the L-form.. arginine : An alpha-amino acid that is glycine in which the alpha-is substituted by a 3-guanidinopropyl group.	3.18	1	0	arginine; glutamine family amino acid; L-alpha-amino acid; proteinogenic amino acid	biomarker; Escherichia coli metabolite; micronutrient; mouse metabolite; nutraceutical
malondialdehyde Malondialdehyde: The dialdehyde of malonic acid.. malonaldehyde : A dialdehyde that is propane substituted by two oxo groups at the terminal carbon atoms respectively. A biomarker of oxidative damage to lipids caused by smoking, it exists in vivo mainly in the enol form.	2.08	1	0	dialdehyde	biomarker
resveratrol trans-resveratrol : A resveratrol in which the double bond has E configuration.	2.98	1	0	resveratrol	antioxidant; phytoalexin; plant metabolite; quorum sensing inhibitor; radical scavenger
coenzyme q10 coenzyme Q10: Ubiquinone ring with a chain of 10 isoprene units; redox equilibrium with ubiqunol serving in mitochondrial inner membrane to transfer electrons; presence during reconstitution of acetylcholine receptor into phospholipid vesicles yields vesicles active in catalyzing carbamylcholine-sensitive Na+ flux; coenzyme Q10 depletion has been noted with use of statins. coenzyme Q10 : A ubiquinone having a side chain of 10 isoprenoid units. In the naturally occurring isomer, all isoprenyl double bonds are in the E- configuration.	5.3	3	0	ubiquinones	antioxidant; ferroptosis inhibitor; human metabolite
tocotrienol, alpha alpha-tocotrienol : A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2, 5, 7 and 8 and a farnesyl chain at position 2. It has been found in palm oil derived from Elaeis guineensis.	3.39	2	0	tocotrienol; vitamin E	ferroptosis inhibitor; human metabolite; neuroprotective agent; plant metabolite
15-hydroxy-5,8,11,13-eicosatetraenoic acid 15-hydroxy-5,8,11,13-eicosatetraenoic acid: potent & selective inhibitor of platelet lipoxygenase; RN given refers to cpd without isomeric designation	2.21	1	0
tocotrienols tocotrienol : A tocol in which the hydrocarbon chain at position 2 contains three double bonds.	2.07	1	0	diterpenoid
technetium tc 99m exametazime Technetium Tc 99m Exametazime: A gamma-emitting RADIONUCLIDE IMAGING agent used in the evaluation of regional cerebral blood flow and in non-invasive dynamic biodistribution studies and MYOCARDIAL PERFUSION IMAGING. It has also been used to label leukocytes in the investigation of INFLAMMATORY BOWEL DISEASES.	2.07	1	0
ubiquinone Ubiquinone: A lipid-soluble benzoquinone which is involved in ELECTRON TRANSPORT in mitochondrial preparations. The compound occurs in the majority of aerobic organisms, from bacteria to higher plants and animals.	10.06	14	3

Condition	Indicated	Relationship Strength	Studies	Trials
Aging The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.	0	2.98	1	0
Disease Exacerbation [description not available]	0	4.82	2	1
Encephalomyelitis, Subacute Necrotizing [description not available]	0	4.82	2	1
Leigh Disease A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).	1	6.82	2	1
Friedreich Disease [description not available]	0	3.56	1	1
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)	1	5.56	1	1
Electron Transport Chain Deficiencies, Mitochondrial [description not available]	0	8.51	10	1
Aura [description not available]	0	2.21	1	0
Epilepsy A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)	0	2.21	1	0
Mitochondrial Diseases Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.	1	10.51	10	1
Encephalomyopathies, Mitochondrial [description not available]	0	2.08	1	0
Hereditary Optic Neuroretinopathy [description not available]	0	6.19	6	0
Optic Atrophy, Hereditary, Leber A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))	0	6.19	6	0
Muscular Weakness [description not available]	0	3.01	1	0
Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.	0	3.01	1	0
Muscle Weakness A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)	0	3.01	1	0
Genetic Diseases [description not available]	0	3.46	1	1
Genetic Diseases, Inborn Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.	0	3.46	1	1
Amaurosis [description not available]	0	4.93	4	0
Blindness The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.	0	4.93	4	0

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