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Friedreich Ataxia (Friedreich's Ataxia)

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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)

Experts

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 02/01/2012 - "The aim of this study was to investigate the efficacy of idebenone on neurological function as assessed by ICARS and FARS neurological rating scales in pediatric Friedreich's ataxia (FRDA) patients. " 02/01/2012 - "Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study." 08/01/2010 - "To assess the efficacy of idebenone on neurological function in patients with Friedreich ataxia. " 01/01/2012 - "More than 10 studies used idebenone in the treatment of Friedreich ataxia but only one small RCT, with 29 participants, using the synthetic antioxidant idebenone 5 mg/kg, fulfilled the selection criteria for this review. " 08/01/2010 - "Idebenone did not significantly alter neurological function in Friedreich ataxia during the 6-month study. "
2.	frataxinIBA 12/01/2015 - "Ongoing Phase II and III trials in both adults and children with FRDA were preceded by a small Phase I, open-label trial in children that showed that IFN-γ-1b was reasonably well-tolerated and improved overall neurological function as measured by the Friedreich Ataxia Rating Scale after 12 weeks of treatment, though the primary outcome measure of frataxin level showed no improvement. " 05/01/2014 - "It has recently been reported that rhuEPO increases frataxin levels in combination with clinical improvement in rhuEPO treated patients with Friedreich ataxia (FRDA). " 01/01/2014 - "An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models." 05/01/2014 - "This brain imaging study investigates cerebello-cerebral white matter connectivity in Friedreich ataxia with diffusion MRI and tractography performed in 13 individuals homozygous for a GAA expansion in intron one of the frataxin gene and 14 age- and gender-matched control participants. " 04/01/2009 - "We used the yeast (Saccharomyces cerevisiae) model of Friedreich's ataxia to study the physiological consequences of modulating the expression of the frataxin gene (YFH1). "
3.	IronIBA 08/01/2015 - "Taken together, this study demonstrates the crucial role of mitoferrin dysfunction in the etiology of Friedreich's ataxia and provides evidence that impairment of mitochondrial iron transport could be an effective treatment of the disease." 06/13/1997 - "Characterizing the mechanism by which YFH1 regulates iron homeostasis in yeast may help to define the pathologic process leading to cell damage in Friedreich's ataxia." 08/01/2015 - "Mitoferrin modulates iron toxicity in a Drosophila model of Friedreich's ataxia." 05/01/2015 - "The understanding of mitochondrial iron processing and its communication with other organelles/subcellular locations, such as the cytosol, has been elucidated by the analysis of certain diseases e.g., Friedreich's ataxia. " 01/01/2014 - "Cerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content."
4.	AntioxidantsIBA 01/01/2012 - "To examine the efficacy of antioxidants and other pharmacological treatments for Friedreich ataxia. " 01/01/2009 - "To examine the efficacy of antioxidants and other pharmacological treatments for Friedreich ataxia. " 04/15/2008 - "Many antioxidants have been suggested as potential treatments for Friedreich ataxia, but have not been tested in clinical trials. " 01/01/2012 - "Antioxidants and other pharmacological treatments for Friedreich ataxia." 01/01/2009 - "Antioxidants and other pharmacological treatments for Friedreich ataxia."
5.	Vitamin E FDA LinkGeneric 02/01/1998 - "This study represents the largest group of patients and mutations reported for this often misdiagnosed disease and points to the need for an early differential diagnosis with Friedreich ataxia, in order to initiate therapeutic and prophylactic vitamin E supplementation before irreversible damage develops." 01/01/1997 - "The purpose of this study was to investigate the hypothesis that the gene for Friedreich's ataxia (FA) may be involved in the metabolism of α-tocopherol (vitamin E) or in other antioxidant systems. " 03/01/2002 - "Serum vitamin E and lipid-adjusted vitamin E assessment in Friedreich ataxia phenotype patients and unaffected family members." 11/01/1996 - "We describe 4 siblings of a consanguineous Bedouin family with Friedreich ataxia phenotype in whom low serum vitamin E levels without other indicators of fat malabsorption were detected. " 01/01/1995 - "Friedreich's ataxia-vitamin E responsive type. "
6.	deferiprone (CP20)IBA 10/01/2014 - "We conducted a 6-month, randomized, double-blind, placebo-controlled study to assess safety, tolerability, and efficacy of deferiprone in Friedreich ataxia (FRDA). " 10/01/2014 - "Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial." 08/01/2013 - "Deferiprone for the treatment of Friedreich's ataxia." 11/01/2011 - "Deferiprone was shown to reverse iron deposition in Friedreich's ataxia. " 03/01/2011 - "Twenty Friedreich's ataxia patients were treated with idebenone (20 mg/kg/day) and deferiprone (20 mg/kg/day) for 11 months. "
7.	Histone Deacetylase InhibitorsIBA 06/01/2011 - "Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model." 06/01/2011 - "Overall, these results support further assessment of HDAC inhibitors for treatment of Friedreich ataxia." 10/01/2006 - "Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia." 10/01/2006 - "This class of HDAC inhibitors may yield therapeutics for Friedreich's ataxia." 01/01/2012 - "Recent publications on a class of pimelic diphenylamide HDAC inhibitors have highlighted their promise in the treatment of the neurodegenerative diseases Friedreich's ataxia and Huntington's disease, based on efficacy in cell and mouse models. "
8.	coenzyme Q10 (CoQ10)IBA 01/01/2003 - "Friedreich's Ataxia: disease mechanisms, antioxidant and Coenzyme Q10 therapy." 01/01/2009 - "With this data in mind, several clinical trials of CoQ10 have been performed in Parkinson's disease and atypical Parkinson's syndromes, Huntington's disease, Alzheimer disease, Friedreich's ataxia, and amyotrophic lateral sclerosis, with equivocal findings. " 11/01/2005 - "A 4-year follow-up on 10 Friedreich's Ataxia patients treated with coenzyme Q10 and vitamin E showed a substantial improvement in cardiac and skeletal muscle bioenergetics and heart function. " 03/01/2010 - "The initial observations of CoQ(10) effects in Parkinson's and Huntington's diseases have been extended to Friedreich's ataxia, where CoQ(10) and other quinones have been tested. " 06/01/2007 - "Friedreich's ataxia: coenzyme Q10 and vitamin E therapy."
9.	UbiquinoneIBA 01/01/2003 - "Similarly, coenzyme Q(10) is also effective in animal models and has shown promising effects both in clinical trials of PD as well as in clinical trials in Huntington's disease and Friedreich's ataxia. " 05/01/2009 - "Idebenone is a synthetic analogue of ubiquinone that may be beneficial in the treatment of Friedreich's ataxia. " 03/10/2009 - "Idebenone, an artificial ubiquinone showing promise in the treatment of Friedreich's Ataxia, reacts at the flavin site. " 09/01/2008 - "Idebenone, a synthetic analogue of coenzyme Q, is a powerful antioxidant that was first administrated to Friedreich's ataxia patients less than 10 years ago. " 12/01/2008 - "A pilot study of high dose coenzyme Q(10) (CoQ(10))/vitamin E therapy in Friedreich's ataxia (FRDA) patients resulted in significant clinical improvements in most patients. "
10.	Chelating AgentsIBA 03/01/2011 - "Iron chelators are a new therapeutical approach for patients with Friedreich's ataxia, on the basis that oxidative cell damage that occurs in these patients is due to the increasing deposits of mitochondrial iron pools. " 02/01/2003 - "Friedreich's ataxia: iron chelators that target the mitochondrion as a therapeutic strategy?" 08/07/1999 - "Our in-vitro data suggest that both iron chelators and antioxidant drugs that may reduce iron are potentially harmful in patients with Friedreich's ataxia. " 01/01/2015 - "The use of iron chelators which are able to penetrate the blood brain barrier and reduce excessive iron accumulation in specific brain regions have been shown to reduce disease progression in both Parkinson's disease and Friedreich's Ataxia. " 01/01/2014 - "Despite that many chelators inhibit FRD in vitro and in vivo, only Deferiprone (L1) has been shown to be effective and safe in the reversal of oxidative stress related tissue damage in iron overload and other conditions such as cardiomyopathy, acute kidney disease, Friedreich ataxia etc. Deferiprone, other chelators and their combinations could be used as main, adjuvant and alternative therapies in untreated conditions eg forms of cancer, Alzheimer's and Parkinson's diseases. "

Therapies and Procedures

1.	Therapeutics 02/01/2013 - "In the field of therapeutics, several studies are currently ongoing for Friedreich's ataxia." 09/01/2012 - "Millions of dollars from public, private, and industry-based initiatives have been dedicated to research in Friedreich ataxia therapeutics. " 12/01/2007 - "Gene-based approaches toward Friedreich ataxia therapeutics." 11/01/2007 - "This review concerns the development of small molecule therapeutics for the inherited neurodegenerative disease Friedreich ataxia (FRDA). " 10/01/2008 - "Here, we summarize the current state of development of HDAC therapeutics and their application for the treatment of human brain disorders such as Rubinstein-Taybi syndrome, Rett syndrome, Friedreich's ataxia, Huntington's disease and multiple sclerosis."
2.	Aftercare (After-Treatment) 09/01/2014 - "White matter changes in patients with friedreich ataxia after treatment with erythropoietin." 01/01/2013 - "Bioenergetics of the calf muscle in Friedreich ataxia patients measured by 31P-MRS before and after treatment with recombinant human erythropoietin." 06/14/1985 - "After treatment with valproic acid a 19-year-old female patient with Friedreich's ataxia and generalised epilepsy died following acute hepatic failure with massive lactacidosis. " 05/01/1999 - "Two patients (siblings) with Friedreich's ataxia showed improvement in their clinical symptoms--particularly spasticity and cardiac symptoms--after treatment with the selective serotonin reuptake inhibitor citalopram." 08/15/2011 - "In 7 patients with Friedreich ataxia, frataxin content was measured in blood and skeletal muscle before and after treatment with recombinant human erythropoietin, applying the electrochemiluminescence immunoassay. "
3.	Complementary Therapies (Alternative Medicine) 01/01/2014 - "Despite that many chelators inhibit FRD in vitro and in vivo, only Deferiprone (L1) has been shown to be effective and safe in the reversal of oxidative stress related tissue damage in iron overload and other conditions such as cardiomyopathy, acute kidney disease, Friedreich ataxia etc. Deferiprone, other chelators and their combinations could be used as main, adjuvant and alternative therapies in untreated conditions eg forms of cancer, Alzheimer's and Parkinson's diseases. "
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) 01/01/2009 - "Pharmacotherapy for Friedreich ataxia." 12/01/2007 - "Early identification of individuals with Friedreich ataxia and precise characterization of impairments and functional limitations gain importance as new drug therapies are considered." 09/01/2012 - "Results of the regimen and the use of MAP chemotherapy for treatment of neoplasms in individuals with Friedreich ataxia are discussed." 11/01/1999 - "Friedreich's ataxia and intrathecal chemotherapy in a patient with lymphoblastic lymphoma." 09/01/2012 - "In this article, the authors present a patient diagnosed as having Friedreich ataxia and osteosarcoma who received combined methotrexate, doxorubicin (Adriamycin), and cisplatin (MAP) chemotherapy over 8 months. "