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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: 1475 relevant articles (62 outcomes, 152 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)

Experts

1. Lynch, David R: 77 articles (05/2022 - 05/2002)
2. Pandolfo, Massimo: 35 articles (01/2022 - 02/2002)
3. Napierala, Marek: 27 articles (10/2022 - 10/2002)
4. Delatycki, Martin B: 24 articles (01/2022 - 02/2004)
5. Pastore, Annalisa: 23 articles (12/2019 - 06/2004)
6. Testi, Roberto: 22 articles (01/2022 - 04/2005)
7. Boesch, Sylvia: 22 articles (01/2021 - 11/2007)
8. Pook, Mark A: 20 articles (01/2022 - 06/2011)
9. Gottesfeld, Joel M: 20 articles (10/2019 - 08/2006)
10. Perlman, Susan L: 18 articles (01/2017 - 10/2003)

Drugs and Biologics

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

Therapies and Procedures

1. Therapeutics
2. Aftercare (After-Treatment)
3. Transplantation
4. Complementary Therapies (Alternative Medicine)
5. Telescopes