Friedreich Ataxia (Friedreich's 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)
Also Known As:
Friedreich's Ataxia; Disease, Friedreich's; Spinocerebellar Ataxia, Friedreich; Hereditary Spinal Sclerosis; Friedreich Familial Ataxia; Friedreich Hereditary Ataxia; Friedreich Hereditary Spinal Ataxia; Friedreich Spinocerebellar Ataxia; Friedreich's Disease; Friedreich's Familial Ataxia; Friedreich's Hereditary Ataxia; Friedreich's Hereditary Spinal Ataxia; Hereditary Spinal Ataxia, Friedreich; Hereditary Spinal Ataxia, Friedreich's; Ataxia, Friedreich; Ataxia, Friedreich Familial; Ataxia, Friedreich Hereditary; Ataxia, Friedreich Spinocerebellar; Ataxia, Friedreich's; Ataxia, Friedreich's Familial; Ataxia, Friedreich's Hereditary; Ataxias, Friedreich; Ataxias, Friedreich's Hereditary; Disease, Friedreich; Familial Ataxia, Friedreich; Familial Ataxia, Friedreich's; Friedreich Ataxias; Friedreich's Hereditary Ataxias; Friedreichs Familial Ataxia; Friedreichs Hereditary Ataxia; Hereditary Ataxia, Friedreich; Hereditary Ataxia, Friedreich's; Hereditary Ataxias, Friedreich's; Hereditary Spinal Scleroses; Scleroses, Hereditary Spinal; Spinal Scleroses, Hereditary; Spinal Sclerosis, Hereditary; Friedreich Disease; Sclerosis, Hereditary Spinal
Networked: 979 relevant articles (42 outcomes, 102 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Neurodegenerative Diseases (Neurodegenerative Disease)
2. Cardiomyopathies (Cardiomyopathy)
3. Huntington Disease (Huntington's Disease)
4. Spasm (Spasms)
5. Kidney Diseases (Kidney Disease)


1. Lynch, David R: 29 articles (12/2015 - 05/2002)
2. Pandolfo, Massimo: 26 articles (02/2015 - 02/2002)
3. Pastore, Annalisa: 17 articles (07/2015 - 06/2004)
4. Isaya, Grazia: 16 articles (06/2015 - 02/2002)
5. Gottesfeld, Joel M: 16 articles (01/2015 - 08/2006)
6. Puccio, Hélène: 15 articles (02/2015 - 06/2002)
7. Boesch, Sylvia: 15 articles (02/2015 - 11/2007)
8. Wilson, Robert B: 13 articles (10/2015 - 05/2002)
9. Pook, Mark A: 13 articles (09/2015 - 06/2011)
10. Perlman, Susan L: 13 articles (08/2015 - 10/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Friedreich Ataxia:
1. idebenoneIBA
2. frataxinIBA
3. IronIBA
4. AntioxidantsIBA
5. Vitamin EFDA LinkGeneric
6. deferiprone (CP20)IBA
7. Histone Deacetylase InhibitorsIBA
8. coenzyme Q10 (CoQ10)IBA
9. UbiquinoneIBA
10. Chelating AgentsIBA

Therapies and Procedures

1. Therapeutics
2. Aftercare (After-Treatment)
3. Complementary Therapies (Alternative Medicine)
4. Activities of Daily Living (ADL)
08/01/2010 - "Mean change in Friedreich Ataxia Rating Scale (FARS) score, performance measures, and activities of daily living were the secondary efficacy variables. "
10/01/2014 - "Safety was the primary objective; secondary objectives included standardized neurological assessments (Friedreich Ataxia Rating Scale [FARS], International Cooperative Ataxia Rating Scale [ICARS], 9-Hole Peg Test [9HPT], Timed 25-Foot Walk, Low-Contrast Letter Acuity), general functional status (Activities of Daily Living), and cardiac assessments. "
03/15/2010 - "A variety of measures are currently used to quantify disease progression, including the Friedreich Ataxia Rating Scale, examiner-rated functional disability scales, self-reported activities of daily living and performance measures such as the timed 25-foot walk, 9-hole pegboard test, PATA speech test, and low-contrast letter acuity vision charts. "
05/01/2010 - "In an observational study of the effect of intermediate-dose idebenone (20 mg/kg per day) on quality of life and neurologic function measures, seven patients with Friedreich ataxia were assessed using the Pediatric Quality of Life Inventory, the International Cooperative Ataxia Rating Scale, and an Activities of Daily Living Scale before initiation of idebenone therapy and after 1 year of therapy. "
02/01/2015 - "The primary outcome measure was the Scale for the Assessment and Rating of Ataxia (SARA) and secondary outcome measures were the Inventory of Non-Ataxia Signs (INAS), the performance-based coordination test Spinocerebellar Ataxia Functional Index (SCAFI), the neurocognitive phonemic verbal fluency test, and two quality-of-life measures: the activities of daily living (ADL) part of the Friedreich's Ataxia Rating Scale and EQ-5D. "
5. Drug Therapy (Chemotherapy)