*  A Study of Resveratrol as Treatment for Friedreich Ataxia - Full Text View - ClinicalTrials.gov
Neurodegenerative Diseases. Genetic Diseases, Inborn. Mitochondrial Diseases. Metabolic Diseases. Resveratrol. Anti- ... Ataxia. Cerebellar Ataxia. Friedreich Ataxia. Dyskinesias. Neurologic Manifestations. Nervous System Diseases. Signs and ... Cerebellar Diseases. Brain Diseases. Central Nervous System Diseases. Spinocerebellar Degenerations. Spinal Cord Diseases. ... Clinical rating scales of ataxia at 12 weeks will be compared to baseline. This will include: a) Friedreich Ataxia Rating Scale ...
  https://clinicaltrials.gov/ct2/show/NCT01339884?term=Ataxia&rank=7
*  Treatment of the neurodegenerative disease Friedreich´s ataxia
35(11):711-7) rhuEPO was successfully tested as a treatment for Friedreich`s ataxia in Phase IIa/IIb and dosefinding studies. ... USE OF ERYTHROPOIETIN FOR THE TREATMENT OF FRIEDREICH´S ATAXIA: In addition to its neuro- and cardioprotective properties ...
  http://www.innovations-report.com/html/reports/technology-offerings/treatment-of-the-neurodegenerative-disease-friedreich-s-ataxia-1.html
*  safflower : Information on Uses, Dosage & Side Effects
Friedreich's ataxia: Friedreich's ataxia is a genetic neurodegenerative disease. In one clinical trial, safflower decreased ... More high-quality studies with larger sample sizes are needed to establish safflower's effect on Friedreich's ataxia. Grade: C ... Friedreich's ataxia, and neurotoxicity from lithium. However, more study is needed in these areas before a firm conclusion can ... Angina pectoris / coronary artery disease: Safflower yellow injection may improve both western and traditional Chinese medicine ...
  https://www.aarpmedicareplans.com/natstandardcontent/safflower?hlpage=drug_information&loc=table_of_contents_nav
*  Frataxin - Wikipedia
Reduced expression of frataxin is the cause of Friedreich's ataxia (FRDA), a lethal neurodegenerative disease. The reduction in ... Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, ... "Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion". Science. 271 (5254): 1423 ... Baralle M, Pastor T, Bussani E, Pagani F (Jul 2008). "Influence of Friedreich ataxia GAA noncoding repeat expansions on pre- ...
  https://en.wikipedia.org/wiki/Frataxin
*  FARA - Fundraiser scheduled for Hayden Despenas
Hayden was diagnosed in May with Friedreich's Ataxia, a rare, genetic neurodegenerative disease. Symptoms include loss of ... muscle strength and coordination; impaired hearing, speech and vision; scoliosis; diabetes and heart disease. ...
  http://www.curefa.org/news/fundraiser-scheduled-for-hayden-despenas
*  Frataxin (human) LANCE Ultra TR-FRET Detection Kit, 10,000 Assay Points | PerkinElmer
The Frataxin protein is the primary culprit for a debilitating neurodegenerative disease called Friedreich's Ataxia. Due to ... similarities in the diseases, there is some evidence to suggest that FXN may be involved in other neurodegenerative diseases ...
  http://www.perkinelmer.com/product/lance-ultra-hfrataxin-kit-10000-pts-trf1322m
*  FARA - Scientific News
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease affecting 1 in 50,000 people and is caused by a ... Friedreich ataxia is a neurodegenerative disease caused by the lack of frataxin, a mitochondrial protein. We previously ... Mitochondrial dysfunction and oxidative damage are at the origin of numerous neurodegenerative diseases like Friedreich ataxia ... Friedreich ataxia (FRDA) is the most common hereditary ataxia, with one individual affected in 50,000. This disease is ...
  http://www.curefa.org/scientific-news?limit=5&start=650
*  Keystone Symposia Conference | Neurodegenerative Diseases: New Insights and Therapeutic Opportunities - Program
Preclinical Mouse Models of Neurodegenerative Diseases Spinal Muscular Atrophy (SMA), Friedreich's Ataxia, Amyotrophic Lateral ... Gene Silencing Therapy for Neurodegenerative Disease. Li Gan, University of California, San Francisco, USA Talk Title to be ... Generation and Use of iPSC-derived Microglia to Study Neurodegenerative Diseases. Katerina Akassoglou, Gladstone Institutes & ... Expanding Mechanisms and Therapeutic Targets for Neurodegenerative Disease Clotilde Lagier-Tourenne, Massachusetts General ...
  https://www.keystonesymposia.org/index.cfm?e=web.Meeting.Program&meetingid=1653
*  FARA - Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells
... dysfunction and oxidative stress and it is the cause of the hereditary neurodegenerative disease Friedreich ataxia (FA). Here, ... Somatic instability of the expanded GAA repeats in Friedreich's ataxia. *Inducible and reversible phenotypes in a novel mouse ... Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia ... The role of oxidative stress in Friedreich's ataxia. *Synthetic transcription elongation factors license transcription across ...
  http://www.curefa.org/scientific-news/apn1-ap-endonuclease-is-essential-for-the-repair-of-oxidatively-damaged-dna-bases-in-yeast-frataxin-deficient-cells
*  3s5e - Proteopedia, life in 3D
Friedreich's ataxia (FRDA) is a progressive neurodegenerative disease that has been linked to defects in the protein frataxin ( ... Disease [FRDA_HUMAN] Defects in FXN are the cause of Friedreich ataxia (FRDA) [MIM:229300]. FRDA is an autosomal recessive, ... Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion ... Friedreich's ataxia variants I154F and W155R diminish frataxin-based activation of the iron-sulfur cluster assembly complex., ...
  http://proteopedia.org/wiki/index.php/3s5e
*  Quest - Article - In Focus: Friedreich's Ataxia - A Quest Article | Muscular Dystrophy Association
... is an inherited neurodegenerative disease affecting approximately one in every 50,000 people in the United States. First ... described by German physician Nikolaus Friedreich in 1863, FA mainly affects the heart and nerve cells of the brain and spinal ... Friedreich's ataxia (FA) is an inherited neurodegenerative disease affecting approximately one in every 50,000 people in the ... Friedreich's Ataxia report, can be downloaded as a printable PDF from this page, as well as from the Friedreich's ataxia ...
  https://www.mda.org/quest/article/focus-friedreichs-ataxia
*  Study identifies genes associated with genomic expansions that cau... ( A study of more than 6000 genes in a...)
6 in the journal Molecular Cell...,Study,identifies,genes,associated,with,genomic,expansions,that,cause,disease,medicine, ... the expansions of these repeats is known to inactivate a gene FXN which leads to Friedreich's ataxia, a neurodegenerative ... Patients with Friedreich's ataxia can have as many as 1,700 copies of the nucleotide sequence, compared to fewer than 65 copies ... "How these expansions happen is a very mysterious process, and we do not know why some people get the disease and some people do ...
  http://www.bio-medicine.org/medicine-news-1/Study-identifies-genes-associated-with-genomic-expansions-that-cause-disease-94260-1/
*  Deuterated drug - Wikipedia
... and has been developing a deuterated fatty acid as a treatment for neurodegenerative diseases such as Friedreich's ataxia and ... version of tetrabenazine that was developed by Teva and approved by the FDA in 2017 as a treatment for Huntington's disease; it ...
  https://en.wikipedia.org/wiki/Deuterated_drug
*  E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target...
Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial ... Friedreich ataxia (FRDA, OMIM: 229300) is a debilitating, life-shortening, neurodegenerative disorder affecting mainly the ... Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271:1423- ... Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia. Biochem. J. 2013;453:321-336. [PubMed] ...
  http://pubmedcentralcanada.ca/pmcc/articles/PMC5329121/
*  Search of: Friedreich's Ataxia - List Results - ClinicalTrials.gov
Neuro-Degenerative Disease. Observational. *Children's Hospital of Philadelphia. *Friedreich's Ataxia Research ... European Friedreich's Ataxia Consortium for Translational Studies. *European Friedreich's Ataxia Consortium for ... Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia Study. *Friedreich's Ataxia ... A First in Human Study of RT001 in Patients With Friedreich's Ataxia. *Friedreich's Ataxia ...
  https://clinicaltrials.gov/ct2/results?term=Friedreich
*  IJMS | Free Full-Text | Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor ...
Increasing evidence supports a role for the Nrf2-ARE pathway in neurodegenerative diseases. In this study, we analyzed the ... a neurodegenerative disease caused by the decreased expression of frataxin, a mitochondrial protein responsible of iron ... Oxidative stress has been implicated in the pathogenesis of Friedreich's Ataxia (FRDA), ... Oxidative stress has been implicated in the pathogenesis of Friedreich's Ataxia (FRDA), a neurodegenerative disease caused by ...
  http://mdpi.com/1422-0067/14/4/7853
*  FARA - Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's AtaxiaExample
Friedreich's ataxia (FRDA) represents a rare neurodegenerative disease caused by expansion of GAA trinucleotide repeats in the ... 1000 and is tightly correlated with age of onset and severity of the disease symptoms. The heterogeneity of Friedreich's ataxia ... Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's AtaxiaExample Details Written ... Somatic instability of the expanded GAA repeats in Friedreich's ataxia. *Inducible and reversible phenotypes in a novel mouse ...
  http://www.curefa.org/scientific-news/funded-research/establishment-and-maintenance-of-primary-fibroblast-repositories-for-rare-diseases-friedreich-s-ataxiaexample
*  Friedreich Ataxia: Dysarthria Profile and Clinical Data | SpringerLink
... is the most frequent recessive ataxia in the Western world. Dysarthria is a cardinal feature of FRDA, often leading to severe ... 3.German Research Center for Neurodegenerative Diseases (DZNE)TübingenGermany. *4.Department of NeuroradiologyUniversity of ... Friedreich ataxia Ataxia score Dysarthria Intelligibility Dysarthria severity Abbreviation. BoDyS. Bogenhausen Dysarthria ... Friedreich ataxia (FRDA) is the most frequent recessive ataxia in the Western world. Dysarthria is a cardinal feature of FRDA, ...
  https://link.springer.com/article/10.1007%2Fs12311-012-0440-0
*  Search of: Recruiting, Not yet recruiting, Available Studies | 'Neurodegenerative Diseases' - List Results - ClinicalTrials.gov
Neuro-Degenerative Disease. Observational. *Children's Hospital of Philadelphia. *Friedreich's Ataxia Research ... s Disease and Other Neurodegenerative Disease. *Alzheimer's Disease ... Establishment of Genetic Basis for Neurological Disease by Genetic Screening. *Neuro-Degenerative Disease ... Positron Emission Tomography (PET) Imaging of Tau Pathology in Neurodegenerative Disease. *Parkinson Disease ...
  https://clinicaltrials.gov/ct2/results?recr=Open&cond=%22Neurodegenerative+Diseases%22
*  The Utility of Iron Chelators in the Management of Inflammatory Disorders
Parkinson's and other major neurodegenerative diseases [113], Friedreich's ataxia [114], amyotrophic lateral sclerosis [115], ... H. Seznec, D. Simon, C. Bouton et al., "Friedreich ataxia: the oxidative stress paradox," Human Molecular Genetics, vol. 14, no ... Preexisting Diseases with Iron Overload. 5.2.1. Hereditary Iron Storage Diseases. Iron overload can be the result of hereditary ... E. Beutler, "Iron storage disease: facts, fiction and progress," Blood Cells, Molecules, and Diseases, vol. 39, no. 2, pp. 140- ...
  https://www.hindawi.com/journals/mi/2015/516740/
*  Neurodegenerative disease mechanism and potential drug identified | EurekAlert! Science News
UC Davis-led studies of neurodegenerative diseases linked to mitochondrial defects offer hope for developing a new biomarker ... for research and diagnostics, and a drug for treating such diseases. ... Neurodegenerative disease mechanism and potential drug identified Offers hope for patients with Friedreich's Ataxia and related ... In addition to Friedreich's ataxia, other mitochondrial diseases include Leber's optic neuropathy, myoneurogenic ...
  https://www.eurekalert.org/pub_releases/2017-06/uoc--ndm060617.php
*  FARA - Gait and Balance in Adults with Friedreich's Ataxia
Friedreich's ataxia (FA) is an autosomal recessive, neurodegenerative disease characterized by progressive muscle weakness and ... Gait and Balance in Adults with Friedreich's Ataxia Details Written by Jen Farmer Category: Funded Research Written: Sunday, ... Somatic instability of the expanded GAA repeats in Friedreich's ataxia. *Inducible and reversible phenotypes in a novel mouse ... Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia ...
  http://www.curefa.org/scientific-news/funded-research/gait-and-balance-in-adults-with-friedreich-s-ataxia
*  Mitochondrial Medicine for Aging and Neurodegenerative Diseases | SpringerLink
1996). Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 271, 1423- ... such as Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and Freidriech ataxia. ... to treat aging and neurodegenerative diseases.. Keywords. Amyloid beta Alzheimer's disease Amyotrophic lateral sclerosis ... 2002). Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart, 87, 346-349. doi:10.1136/heart.87.4.346.PubMed ...
  https://link.springer.com/article/10.1007%2Fs12017-008-8044-z
*  Familial isolated vitamin E deficiency - Wikipedia
Vitamin E Deficiency also known as Ataxia With Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease. ... Symptoms are similar to those of Friedreich ataxia. Familial Isolated Vitamin E Deficiency is caused by mutations in the gene ... permanent dead link] Ataxia with vitamin E deficiency at NIH's Office of Rare Diseases. ... "A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia" (Free full text). Archives of Neurology ...
  https://en.wikipedia.org/wiki/Familial_isolated_vitamin_E_deficiency
*  Education | Muscular Dystrophy Association
In Focus: Friedreich's Ataxia. Friedreich's ataxia (FA) is an inherited neurodegenerative disease affecting approximately one ... In Focus: Central Core Disease (CCD). This special report focuses on central core disease (CCD), a genetic muscle disease ... This special report takes a look at the issues that arise for expectant mothers with muscle disease and finds that, with proper ... When Emma Ciafaloni was preparing to become a neuromuscular disease specialist in the 1990s, and even when she directed the MDA ...
  https://www.mda.org/quest/education?page=1