FRDA
MCID: FRD001
MIFTS: 62

Friedreich Ataxia (FRDA)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Friedreich Ataxia

MalaCards integrated aliases for Friedreich Ataxia:

Name: Friedreich Ataxia 57 11 24 19 42 52 58 73 28 53 5 41 43 14 38 71 33
Friedreich Ataxia 1 57 11 73 28 5 43 14 71
Frda 57 24 19 42 58 73
Friedreich Ataxia with Retained Reflexes 57 73 28 12 5
Frda1 57 11 73 53
Fa 57 42 58 73
Friedreich's Ataxia 11 19 75
Hereditary Spinal Ataxia 19 71
Spinocerebellar Ataxia, Friedreich 19
Friedreich Spinocerebellar Ataxia 42
Hereditary Spinal Sclerosis 19
Friedreich's Tabes 11
Friedrich's Ataxia 42
Fa1 11

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

1-9/100000 (Europe, France, Italy, Italy, Spain, Finland, United Kingdom, Norway, Germany, Russian Federation) 1-9/1000000 (Finland, Portugal, Greece, Sweden, Czech Republic) 58

Age Of Onset:

Adolescent,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset before adolescence
most common inherited ataxia
estimated carrier frequency 1/100
patients often nonambulatory by the mid-twenties
major cause of death is heart failure
average age at death is 37 years
most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene
repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats)


GeneReviews:

24
Penetrance Penetrance is complete in those with biallelic full-penetrance gaa repeat expansions and in compound heterozygotes for a full-penetrance gaa expansion in one allele and a fxn pathogenic variant in the other allele. however, because of wide variability in the size of pathogenic expanded alleles, and for other unknown reasons, onset can range from before age five years to after age 50 years. this variability in age-dependent penetrance can occasionally occur within the same sibship....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Friedreich Ataxia

MedlinePlus Genetics: 42 Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech, hearing, and vision. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life-threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine (scoliosis).Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder between ages 5 and 15. Poor coordination and balance are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear.About 25 percent of people with Friedreich ataxia have an atypical form in which signs and symptoms begin after age 25. Affected individuals who develop Friedreich ataxia between ages 26 and 39 are considered to have late-onset Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical Friedreich ataxia.

MalaCards based summary: Friedreich Ataxia, also known as friedreich ataxia 1, is related to friedreich ataxia 2 and ataxia with vitamin e deficiency, and has symptoms including ataxia, tremor and myoclonus. An important gene associated with Friedreich Ataxia is FXN (Frataxin). The drugs Citalopram and Bupropion have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and eye, and related phenotypes are gait ataxia and dysarthria

NINDS: 52 Friedreich ataxia is a rare inherited disease that causes progressive damage to the nervous system. It is caused by a defect in the FXN gene that produces the protein frataxin. Frataxin controls important steps in mitochondrial iron metabolism and overall cell iron stability. Research suggests that cells that have a reduced level of frataxin produce energy less effectively, which may lead to a buildup of toxic byproducts. Symptoms typically appear between ages 5 and 15 years but can begin in adulthood. Damage to the peripheral nerves and the cerebellum (part of the brain that coordinates balance and movement) results in awkward, unsteady movements and impaired muscle coordination (ataxia) that worsens and eventually spreads to the arms and the trunk of the body. Other symptoms include loss of sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected. Many people with Friedreich ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Some individuals may develop diabetes.

MedlinePlus: 41 Friedreich ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include: Difficulty walking Muscle weakness Speech problems Involuntary eye movements Scoliosis (curving of the spine to one side) Heart palpitations, from the heart disease which can happen along with Friedreich ataxia People with Friedreich ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy. NIH: National Institute of Neurological Disorders and Stroke

GARD: 19 Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. This condition is caused by genetic changes in the FXN gene and is inherited in an autosomal recessive pattern.

OMIM®: 57 Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty. It is one of the most common forms of autosomal recessive ataxia, occurring in about 1 in 50,000 individuals. Other variable features include visual defects, scoliosis, pes cavus, and cardiomyopathy (review by Delatycki et al., 2000). Pandolfo (2008) provided an overview of Friedreich ataxia, including pathogenesis, mutation mechanisms, and genotype/phenotype correlation. (229300) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region.

Orphanet: 58 Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

Disease Ontology: 11 A Friedreich ataxia that has material basis in homozygous or compound heterozygous mutation in FXN on 9q21.1.

Wikipedia: 75 Friedreich's ataxia (FRDA or FA) is an autosomal-recessive genetic disease that causes difficulty... more...

GeneReviews: NBK1281

Related Diseases for Friedreich Ataxia

Diseases in the Friedreich Ataxia family:

Friedreich Ataxia 2

Diseases related to Friedreich Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 407)
# Related Disease Score Top Affiliating Genes
1 friedreich ataxia 2 33.4 PIP5K1B FXN FRDA2
2 ataxia with vitamin e deficiency 32.8 TTPA SETX FXN APTX
3 hereditary ataxia 31.2 TTPA SETX FXN FMR1 CACNA1A ATXN8OS
4 aceruloplasminemia 31.1 TFRC SOD2 SETX FXN FTMT CACNA1A
5 multiple system atrophy 1 31.0 FMR1 CACNA1A ATXN1
6 autosomal dominant cerebellar ataxia 30.9 TTPA SETX FXN FMR1 CACNA1A ATXN8OS
7 cerebellar disease 30.8 TTPA SETX FXN FMR1 CACNA1A ATXN8OS
8 spinocerebellar ataxia 2 30.8 SETX CACNA1A ATXN8OS ATXN2
9 tabes dorsalis 30.8 TTPA FXN
10 oculomotor apraxia 30.8 SETX APTX
11 olivopontocerebellar atrophy 30.8 CACNA1A ATXN2 ATXN1
12 amyotrophic lateral sclerosis 1 30.7 TFRC SOD2 SETX FXN FMR1 CACNA1A
13 hemochromatosis, type 1 30.7 TFRC SETX FXN FECH ATXN2 ACO1
14 spastic ataxia, charlevoix-saguenay type 30.7 TTPA SETX APTX
15 machado-joseph disease 30.7 FXN CACNA1A ATXN8OS ATXN2 ATXN1
16 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 30.6 TTPA SETX FXN CACNA1A APTX
17 spastic ataxia 30.6 TTPA SETX FXN CACNA1A ATXN1 APTX
18 choreatic disease 30.5 SETX FXN CACNA1A ATXN2 ATXN1 APTX
19 spinocerebellar ataxia 10 30.5 FXN FMR1 ATXN8OS ATXN2
20 myotonic dystrophy 2 30.5 FXN FMR1 ATXN8OS
21 autosomal recessive cerebellar ataxia 30.5 TTPA SETX FXN FMR1 CACNA1A ATXN1
22 dentatorubral-pallidoluysian atrophy 30.5 FXN CACNA1A ATXN8OS ATXN2 ATXN1
23 sideroblastic anemia 30.5 TFRC SOD2 FXN FTMT FECH ACO1
24 myotonic dystrophy 1 30.4 FXN FMR1 ATXN8OS ATXN2
25 hereditary spastic paraplegia 30.4 SETX FXN FMR1 CACNA1A ATXN2 ATXN1
26 spinocerebellar ataxia 1 30.4 SETX FXN FMR1 CACNA1A ATXN2 ATXN1
27 huntington disease-like 2 30.4 FXN CACNA1A ATXN8OS ATXN2
28 spinocerebellar ataxia 12 30.4 CACNA1A ATXN8OS ATXN2 ATXN1
29 spinocerebellar ataxia 7 30.4 ATXN8OS ATXN2 ATXN1
30 spinocerebellar ataxia 6 30.4 FXN CACNA1A ATXN8OS ATXN2 ATXN1
31 spinocerebellar ataxia 17 30.3 CACNA1A ATXN8OS ATXN2 ATXN1
32 peripheral nervous system disease 30.3 SETX FXN FMR1 CACNA1A APTX
33 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 30.3 TTPA SETX FXN CACNA1A ATXN1 APTX
34 restless legs syndrome 30.3 TFRC FTMT FMR1 CACNA1A ATXN2 ATXN1
35 spinal and bulbar muscular atrophy, x-linked 1 30.3 FXN FMR1 CACNA1A ATXN2 ATXN1
36 parkinson disease, late-onset 30.2 SOD2 FXN FMR1 CACNA1A ATXN8OS ATXN2
37 friedreich ataxia and congenital glaucoma 11.3
38 cerebellar ataxia, early-onset, with retained tendon reflexes 11.3
39 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness 11.1
40 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined 11.1
41 auditory neuropathy, autosomal dominant 1 11.1
42 combarros calleja leno syndrome 11.1
43 scoliosis, isolated 1 11.1
44 scoliosis 10.7
45 cardiomyopathy, familial hypertrophic, 1 10.7
46 hypertrophic cardiomyopathy 10.7
47 iron metabolism disease 10.6
48 spasticity 10.5
49 mitochondrial disease 10.5
50 anemia, sideroblastic, and spinocerebellar ataxia 10.5 FXN FECH ACO1

Comorbidity relations with Friedreich Ataxia via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Friedreich Ataxia:



Diseases related to Friedreich Ataxia

Symptoms & Phenotypes for Friedreich Ataxia

Human phenotypes related to Friedreich Ataxia:

58 30 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 58 30 Obligate (100%) Obligate (100%)
HP:0002066
2 dysarthria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001260
3 gait imbalance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002141
4 babinski sign 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003487
5 impaired proprioception 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010831
6 limb ataxia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002070
7 hand muscle atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009130
8 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
9 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
10 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
11 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000648
12 dysmetria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001310
13 pes cavus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001761
14 cardiomyopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001638
15 intention tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0002080
16 poor fine motor coordination 58 30 Frequent (33%) Frequent (79-30%)
HP:0007010
17 urinary bladder sphincter dysfunction 58 30 Frequent (33%) Frequent (79-30%)
HP:0002839
18 falls 58 30 Frequent (33%) Frequent (79-30%)
HP:0002527
19 abnormal saccadic eye movements 58 30 Frequent (33%) Frequent (79-30%)
HP:0000570
20 areflexia of lower limbs 58 30 Frequent (33%) Frequent (79-30%)
HP:0002522
21 sensory axonal neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003390
22 cervical spinal cord atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0010873
23 impaired visually enhanced vestibulo-ocular reflex 58 30 Frequent (33%) Frequent (79-30%)
HP:0030183
24 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001257
25 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
26 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
27 chorea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002072
28 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
29 reduced visual acuity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007663
30 dystonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001332
31 decreased motor nerve conduction velocity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003431
32 incomprehensible speech 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002546
33 inability to walk 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002540
34 abnormality of visual evoked potentials 30 HP:0000649
35 congestive heart failure 30 HP:0001635
36 hypertrophic cardiomyopathy 30 HP:0001639
37 abnormality of the foot 58 Frequent (79-30%)
38 sensory neuropathy 30 HP:0000763
39 impaired vibratory sensation 30 HP:0002495
40 visual field defect 30 HP:0001123
41 abnormal ekg 30 HP:0003115
42 decreased amplitude of sensory action potentials 30 HP:0007078
43 decreased sensory nerve conduction velocity 30 HP:0003448
44 decreased pyruvate carboxylase activity 30 HP:0003209
45 mitochondrial malic enzyme reduced 30 HP:0003232

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
nystagmus
dysarthria
impaired proprioception
gait and limb ataxia
impaired vibratory sense

Cardiovascular Heart:
hypertrophic cardiomyopathy

Laboratory Abnormalities:
abnormal echocardiogram
abnormal ekg
abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem
low pyruvate carboxylase activity in liver and cultured fibroblasts
decreased mitochondrial malic enzyme

Head And Neck Eyes:
nystagmus
optic atrophy
visual field defects
reduced visual acuity (less common)
reduced retinal nerve fiber layer thickness
more
Endocrine Features:
diabetes mellitus

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
extensor plantar responses
peripheral sensory neuropathy
abnormal motor and sensory nerve conduction
absent lower limb tendon reflexes

Clinical features from OMIM®:

229300 (Updated 08-Dec-2022)

UMLS symptoms related to Friedreich Ataxia:


ataxia; tremor; myoclonus; back pain; headache; syncope; pain; chronic pain; sciatica; seizures; vertigo/dizziness; sleeplessness; cerebellar ataxia/dyskinesia

MGI Mouse Phenotypes related to Friedreich Ataxia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.4 APTX ATXN1 ATXN2 CACNA1A FECH FMR1

Drugs & Therapeutics for Friedreich Ataxia

Drugs for Friedreich Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 114)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-32-7, 59729-33-8 2771
2
Bupropion Approved Phase 4 31677-93-7, 34841-39-9, 34911-55-2 444
3
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
4
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
5
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453
6
Dexetimide Withdrawn Phase 4 21888-98-2 30843
7 Parasympatholytics Phase 4
8 Dopamine Uptake Inhibitors Phase 4
9 Dopamine Agents Phase 4
10 Antiparkinson Agents Phase 4
11 Psychotropic Drugs Phase 4
12 Antidepressive Agents Phase 4
13 Serotonin Uptake Inhibitors Phase 4
14 Cytochrome P-450 Enzyme Inhibitors Phase 4
15 Muscarinic Antagonists Phase 4
16 Cholinergic Antagonists Phase 4
17 Vitamins Phase 4
18 Trace Elements Phase 4
19 Micronutrients Phase 4
20 Calcium, Dietary Phase 4
21 Hormones Phase 4
22 Calciferol Phase 4
23 Vasoconstrictor Agents Phase 4
24
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
25
Calcium Nutraceutical Phase 4 7440-70-2 271
26
Idebenone Approved, Investigational Phase 3 58186-27-9 3686
27
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
28
Coal tar Approved Phase 3 8007-45-2
29
Varenicline Approved, Investigational Phase 2, Phase 3 249296-44-4 5310966
30
Ubidecarenone Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
31 Antiviral Agents Phase 3
32 Anti-Infective Agents Phase 3
33 interferons Phase 3
34 Interferon-gamma Phase 3
35 Protective Agents Phase 3
36 Antioxidants Phase 3
37 Ubiquinone Phase 3
38 Linoleate Phase 3
39 Hypoglycemic Agents Phase 3
40 Pharmaceutical Solutions Phase 3
41 Neurotransmitter Agents Phase 2, Phase 3
42 Cholinergic Agents Phase 2, Phase 3
43 Nicotinic Agonists Phase 2, Phase 3
44
Iron Approved Phase 1, Phase 2 7439-89-6 29936
45
Cianidanol Approved, Withdrawn Phase 2 154-23-4 9064
46
Tocopherol Approved, Investigational Phase 2 1406-66-2
47
Deferiprone Approved Phase 1, Phase 2 30652-11-0 2972
48
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 1, Phase 2 14838-15-4, 492-39-7 131954576 4786 26934
49
Guaifenesin Approved, Investigational, Vet_approved Phase 1, Phase 2 93-14-1 3516
50
Etravirine Approved Phase 2 269055-15-4 193962

Interventional clinical trials:

(show top 50) (show all 80)
# Name Status NCT ID Phase Drugs
1 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4 bupropion & Citalopram;Bupropion & Placebo;Placebo & Citalopram;Placebo & Placebo
2 Pilot Trial About the Effects of Calcitriol's Treatment in the Neurological Function and Frataxin's Level in Friedreich's Ataxia Patients Active, not recruiting NCT04801303 Phase 4 Calcitriol
3 A Phase III Open-Label, Single Group Extension Study of the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
4 A Randomized, Double-Blind, Controlled, Phase 2/3 Study to Assess Efficacy, Long Term Safety and Tolerability of RT001 in Subjects With Friedreich's Ataxia Completed NCT04102501 Phase 3 RT001;Placebo
5 Multicenter, Safety and Efficacy, Open-Label Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02593773 Phase 3 Interferon γ-1b
6 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
7 Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02797080 Phase 3 interferon γ-1b
8 A Phase III Double-Blind, Randomized, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00537680 Phase 3 Idebenone;Placebo
9 A Phase III Double-blind, Randomised, Placebo-controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00905268 Phase 3 idebenone;Placebo
10 Randomized, Multicenter, Double-Blind, Placebo-Controlled, Efficacy, Safety, and Pharmacokinetic Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
11 A Phase III Open-Label, Single-Group, Extension Study to Obtain Long-Term Safety and Tolerability Data of Idebenone in the Treatment of Friedreich's Ataxia Patients. Completed NCT00993967 Phase 3 idebenone
12 A Phase IIIb Double-Blind, Randomised, Placebo-Controlled Study of Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone Completed NCT01303406 Phase 3 Idebenone;Placebo
13 A Randomized, Parallel-Arm, Double-Blind, Placebo-Controlled Study With Open-Label Extension to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Friedreich Ataxia (MOVE-FA) Active, not recruiting NCT04577352 Phase 2, Phase 3 Vatiquinone;Placebo
14 Long-Term Open-Label Study to Assess the Safety and Efficacy of Vatiquinone in Patients With Friedreich Ataxia Not yet recruiting NCT05515536 Phase 3 Vatiquinone
15 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
16 Pharmacodynamic Studies of a Histone Deacetylase Inhibitor in Friedreich's Ataxia Unknown status NCT01589809 Phase 2 nicotinamide
17 Safety and Efficacy of γIFN Treatment in Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon
18 Efficacy of EGb761 120mg Bid Versus Placebo in Patients Suffering From Friedreich Ataxia. A 3 Month, Phase II, Randomised, Double Blind, Placebo Controlled, Parallel Group Clinical Study. Completed NCT00824512 Phase 2 EGb 761 120 mg;Placebo
19 Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
20 Effect of Iron-Chelating Therapy in Friedreich Ataxia. Study Phase I/II Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
21 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Parallel-Arm Study to Evaluate Efficacy, Tolerability, and Pharmacokinetics of Multiple Doses of Oral TAK-831 in Adult Subjects With Friedreich Ataxia Completed NCT03214588 Phase 2 TAK-831;TAK-831 Placebo
22 A Double-blind, Randomized, Placebo-controlled, Clinical Trial to Test the Efficacy of Epoetin Alfa on Physical Performance of Friedreich Ataxia Patients. Completed NCT01493973 Phase 2 Epoetin alfa;Placebo
23 An Open Label Clinical Pilot Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
24 A Double-Blind, Placebo-controlled Study on the Effects of MIN-102 on Biochemical, Imaging, Neurophysiological, and Clinical Markers in Patients With Friedreich's Ataxia Completed NCT03917225 Phase 2 MIN-102;Placebo
25 A Phase IIa Clinical Trial to Test the Safety and Efficacy of Interferon Gamma Treatment in Elevating Frataxin Levels in Friedreich's Ataxia (FRDA) Patients Completed NCT02035020 Phase 2 gamma interferon
26 A Six Month Double-Blind, Placebo-Controlled Phase 2 Clinical Trial to Determine the Safety and Efficacy of Idebenone Administered to Patients With Friedreich's Ataxia Completed NCT00229632 Phase 2 Idebenone
27 A Phase II, Open Label Prospective Single Center Drug Study Evaluating the Safety and Efficacy of (+)-Epicatechin in Subjects With Friedreich's Ataxia Completed NCT02660112 Phase 2 (+)-Epicatechin
28 Single-Center, Open-Label, Sequential Trial to Test the Efficacy, Safety and Tolerability of Epoetin Alfa in Patients With Friedreich's Ataxia Completed NCT00631202 Phase 2 Epoetin alfa
29 A Phase 2A Clinical Trial of EPI-743 (Vincerinone™) on Visual Function in Friedreich's Ataxia Patients With Point Mutations Completed NCT01962363 Phase 2 EPI-743
30 A Six-month Double-blind, Randomized, Placebo-controlled Study Investigating the Safety and Tolerability of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00530127 Phase 1, Phase 2 placebo;deferiprone
31 A Randomized, Double-blind, Controlled Study to Assess the Safety, Tolerability, and Pharmacokinetics of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 Low dose cohort;High dose cohort
32 Randomised, Double Blind, Placebo Controlled Study of Lu AA24493 in Patients With Friedreich's Ataxia to Evaluate Safety and Tolerability and to Explore Efficacy Completed NCT01016366 Phase 2 Lu AA24493;Placebo
33 An Open-label, Single Treatment, Safety and Efficacy, Long-term Study of Deferiprone in Subjects With Friedreich's Ataxia Completed NCT00897221 Phase 2 Deferiprone oral solution 100mg/mL;Deferiprone oral solution 100 mg/mL
34 A Phase 2a, Double-Blind, Randomized, Placebo-Controlled, 28 Day, Three-arm, Parallel Group Study of A0001 in the Treatment of Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2 alpha-tocopherolquinone (A0001);placebo
35 Safety and Efficacy Study of EPI-743 on Visual Function in Patients With Friedreich's Ataxia Completed NCT01728064 Phase 2 Placebo;EPI-743 400 mg;EPI-743 200 mg
36 An Open-Label Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Vatiquinone in Children With Friedreich Ataxia Younger Than 7 Years of Age Recruiting NCT05485987 Phase 2 Vatiquinone
37 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Dose Exploration Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CTI-1601 in Adult Subjects With Friedreich's Ataxia Recruiting NCT05579691 Phase 2
38 A Phase 1/2 Study of the Safety and Efficacy of LX2006 Gene Therapy in Participants With Cardiomyopathy Associated With Friedreich's Ataxia Recruiting NCT05445323 Phase 1, Phase 2
39 A Phase 2 Clinical Trial to Test the Safety and Efficacy of Etravirine in Friedreich Ataxia Patients Active, not recruiting NCT04273165 Phase 2 Etravirine Tablets
40 A Pilot Investigator Initiated Study to Evaluate the Safety, Tolerability and Efficacy of Elamipretide in the Treatment of Advanced Symptoms of Friedreich Ataxia (FRDA) Active, not recruiting NCT05168774 Phase 1, Phase 2 Elamipretide
41 A Randomised Placebo-controlled Crossover Trial of Micronised Resveratrol as a Treatment for Friedreich Ataxia Active, not recruiting NCT03933163 Phase 2 Resveratrol
42 A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Friedreich's Ataxia (MOXIe) Active, not recruiting NCT02255435 Phase 2 Omaveloxolone Capsules, 2.5 mg;Omaveloxolone Capsules, 5 mg;Omaveloxolone Capsules, 10 mg;Placebo;Omaveloxolone Capsules, 20 mg;Omaveloxolone Capsules, 40 mg;Omaveloxolone Capsules, 80 mg;Omaveloxolone Capsules, 160 mg;Omaveloxolone Capsules, 300 mg;Omaveloxolone Capsules, 150 mg
43 A Phase 2a Study of NAD+ Precursor Supplementation in Friedreich's Ataxia Active, not recruiting NCT04817111 Phase 2 MIB-626
44 Evaluation of the Effect of Artesunate in Friedreich Ataxia (FA) Phase I-II Efficacy-Toxicity of Artesunate in Friedreich Ataxia Not yet recruiting NCT04921930 Phase 1, Phase 2 Artesunate Oral Product
45 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Multicentre Study of the Efficacy and Safety of Nicotinamide in Patients With Friedreich Ataxia Not yet recruiting NCT03761511 Phase 2 Nicotinamide;Placebo
46 A Phase 1 Single Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CTI-1601 Versus Placebo in Subjects With Friedreich's Ataxia Completed NCT04176991 Phase 1
47 Phase I Clinical Trial to Establish the Maximum Tolerated Dose of Idebenone in Children, Adolescents, and Adults With Friedreich's Ataxia Completed NCT00015808 Phase 1 Idebenone
48 Phase 1B Clinical Trial to Establish the Safety and Tolerability of a Multiple-Dose Regimen of Idebenone Administered to Patients With Friedreich's Ataxia Completed NCT00078481 Phase 1 Idebenone
49 A Phase 1 Multiple Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CTI-1601 Versus Placebo in Subjects With Friedreich's Ataxia Completed NCT04519567 Phase 1
50 A Phase 1, Randomized, Double-blind, Placebo-controlled, Multicenter, Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Oral VP 20629 in Adult Subjects With Friedreich's Ataxia Completed NCT01898884 Phase 1 VP 20629;Placebo

Search NIH Clinical Center for Friedreich Ataxia

Cochrane evidence based reviews: friedreich ataxia

Genetic Tests for Friedreich Ataxia

Genetic tests related to Friedreich Ataxia:

# Genetic test Affiliating Genes
1 Friedreich Ataxia 1 28 FXN
2 Friedreich Ataxia 28
3 Friedreich Ataxia with Retained Reflexes 28

Anatomical Context for Friedreich Ataxia

Organs/tissues related to Friedreich Ataxia:

MalaCards : Heart, Spinal Cord, Eye, Cerebellum, Brain, Liver, Dorsal Root Ganglion

Publications for Friedreich Ataxia

Articles related to Friedreich Ataxia:

(show top 50) (show all 3212)
# Title Authors PMID Year
1
Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study. 53 62 24 57 5
10399865 1999
2
G130V, a common FRDA point mutation, appears to have arisen from a common founder. 62 24 57 5
10543403 1999
3
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. 53 62 24 57
17262846 2007
4
Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene. 53 62 24 57
11843702 2002
5
Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. 53 62 24 57
9603975 1998
6
Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 62 57 5
9150176 1997
7
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. 53 62 24 57
8751856 1996
8
FXN methylation predicts expression and clinical outcome in Friedreich ataxia. 62 24 57
22522441 2012
9
Visual system involvement in patients with Friedreich's ataxia. 62 24 57
18931386 2009
10
Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin. 62 24 57
17702040 2007
11
Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families. 62 24 57
11298681 2001
12
Clinical and genetic study of Friedreich ataxia in an Australian population. 62 24 57
10533031 1999
13
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion. 62 24 57
9539351 1998
14
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. 62 24 57
9443873 1998
15
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. 62 24 57
9259271 1997
16
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. 62 24 57
9207112 1997
17
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. 62 24 57
9245990 1997
18
Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia. 62 24 57
9142000 1997
19
Clinical and genetic abnormalities in patients with Friedreich's ataxia. 62 24 57
8815938 1996
20
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. 62 24 5
8596916 1996
21
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. 62 24 57
7272714 1981
22
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. 53 62 57
19376812 2009
23
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia. 53 62 57
18815198 2009
24
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. 53 62 57
15028670 2004
25
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells. 53 62 57
12393810 2002
26
Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. 53 62 57
12020255 2002
27
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. 53 62 57
11939898 2002
28
Very late onset Friedreich's presenting as spastic tetraparesis without ataxia or neuropathy. 24 57
11425956 2001
29
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. 53 62 57
10767347 2000
30
Recent advances in the molecular pathogenesis of Friedreich ataxia. 53 62 57
10767311 2000
31
Friedreich ataxia: an overview. 53 62 57
10633128 2000
32
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. 53 62 57
10465173 1999
33
Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group. 62 57
34435700 2021
34
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study). 62 57
33068037 2021
35
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype. 62 5
21830088 2011
36
Altered lipid metabolism in a Drosophila model of Friedreich's ataxia. 62 57
20460268 2010
37
Low predisposition to instability of the Friedreich ataxia gene in Cuban population. 62 57
20569261 2010
38
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. 62 57
19440741 2010
39
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients. 62 57
18697824 2008
40
Friedreich ataxia. 62 57
18852343 2008
41
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. 62 57
18045775 2008
42
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. 62 57
18569450 2008
43
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia. 62 57
18184803 2008
44
Frataxin gene point mutations in Italian Friedreich ataxia patients. 62 5
17703324 2007
45
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. 62 57
17498922 2007
46
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones. 62 5
17331979 2007
47
The 25-foot walk velocity accurately measures real world ambulation in Friedreich ataxia. 62 57
17325285 2007
48
The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. 62 57
17024371 2007
49
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. 62 57
16919418 2006
50
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. 53 62 24
16921367 2006

Variations for Friedreich Ataxia

ClinVar genetic disease variations for Friedreich Ataxia:

5 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC108510657, FXN NM_000144.5(FXN):c.165+1338AAG[180] MICROSAT Pathogenic
1065563 GRCh37: 9:71652200-71652201
GRCh38: 9:69037284-69037285
2 LOC108510657, FXN NG_008845.2:g.6725GAA[(200_900)] MICROSAT Pathogenic
Pathogenic
561195 GRCh37: 9:71652203-71652220
GRCh38: 9:69037287-69037304
3 FXN NM_000144.5(FXN):c.317T>G (p.Leu106Ter) SNV Pathogenic
3979 rs104894105 GRCh37: 9:71668109-71668109
GRCh38: 9:69053193-69053193
4 FXN NM_000144.5(FXN):c.385-2A>G SNV Pathogenic
3980 rs140987490 GRCh37: 9:71679852-71679852
GRCh38: 9:69064936-69064936
5 FXN NM_000144.5(FXN):c.460A>T (p.Ile154Phe) SNV Pathogenic
3981 rs104894106 GRCh37: 9:71679929-71679929
GRCh38: 9:69065013-69065013
6 FXN NM_000144.5(FXN):c.389G>T (p.Gly130Val) SNV Pathogenic
3982 rs104894107 GRCh37: 9:71679858-71679858
GRCh38: 9:69064942-69064942
7 FXN NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr) INDEL Pathogenic
35514 rs886037630 GRCh37: 9:71668163-71668168
GRCh38: 9:69053247-69053252
8 FXN NM_000144.5(FXN):c.438C>G (p.Asn146Lys) SNV Pathogenic
549677 rs146818694 GRCh37: 9:71679907-71679907
GRCh38: 9:69064991-69064991
9 FXN NM_000144.5(FXN):c.157del (p.Arg53fs) DEL Pathogenic
3985 rs141935559 GRCh37: 9:71650852-71650852
GRCh38: 9:69035936-69035936
10 FXN NM_000144.5(FXN):c.3G>T (p.Met1Ile) SNV Pathogenic
3983 rs104894108 GRCh37: 9:71650701-71650701
GRCh38: 9:69035785-69035785
11 FXN NM_000144.5(FXN):c.166-5T>G SNV Likely Pathogenic
1064596 GRCh37: 9:71661296-71661296
GRCh38: 9:69046380-69046380
12 FXN NM_000144.5(FXN):c.517T>G (p.Trp173Gly) SNV Likely Pathogenic
3984 rs56214919 GRCh37: 9:71687562-71687562
GRCh38: 9:69072646-69072646
13 FXN NM_000144.5(FXN):c.146C>A (p.Thr49Asn) SNV Uncertain Significance
1032212 rs995690945 GRCh37: 9:71650844-71650844
GRCh38: 9:69035928-69035928
14 FXN NG_008845.2:g.6743_6746delinsGAAGGA[66]GAAG INDEL Likely Benign
804267 GRCh37:
GRCh38:
15 FXN NM_000144.5(FXN):c.54A>G (p.Pro18=) SNV Benign
129120 rs2481598 GRCh37: 9:71650752-71650752
GRCh38: 9:69035836-69035836

UniProtKB/Swiss-Prot genetic disease variations for Friedreich Ataxia:

73
# Symbol AA change Variation ID SNP ID
1 FXN p.Asp122Tyr VAR_002428 rs142157346
2 FXN p.Gly130Val VAR_002429 rs104894107
3 FXN p.Ile154Phe VAR_002430 rs104894106
4 FXN p.Trp155Arg VAR_002431 rs138471431
5 FXN p.Arg165Cys VAR_008139 rs138034837
6 FXN p.Leu182Phe VAR_008140 rs139616452
7 FXN p.Leu106Ser VAR_016065 rs104894105
8 FXN p.Leu198Arg VAR_016066 rs144104124

Expression for Friedreich Ataxia

Search GEO for disease gene expression data for Friedreich Ataxia.

Pathways for Friedreich Ataxia

GO Terms for Friedreich Ataxia

Cellular components related to Friedreich Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.32 SOD2 MIPEP FXN FTMT FECH

Biological processes related to Friedreich Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion homeostasis GO:0055072 9.72 SOD2 FXN FECH
2 intestinal absorption GO:0050892 9.71 TJP2 ACO1
3 response to manganese ion GO:0010042 9.67 TFRC SOD2
4 positive regulation of succinate dehydrogenase activity GO:1904231 9.56 FXN FTMT
5 positive regulation of aconitate hydratase activity GO:1904234 9.46 FTMT FXN
6 positive regulation of lyase activity GO:0051349 9.26 FXN FTMT
7 cellular iron ion homeostasis GO:0006879 9.23 TFRC FXN FTMT ACO1

Molecular functions related to Friedreich Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ferric iron binding GO:0008199 9.62 FXN FTMT
2 poly(G) binding GO:0034046 9.56 ATXN1 FMR1
3 ferroxidase activity GO:0004322 9.46 FXN FTMT
4 iron-responsive element binding GO:0030350 9.26 FECH ACO1
5 ferrous iron binding GO:0008198 9.1 FXN FTMT FECH

Sources for Friedreich Ataxia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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