Human Mesenchymal Stem Cells Increase Anti-oxidant Defences in Cells Derived from Patients with Friedreich's Ataxia.

Human Mesenchymal Stem Cells Increase Anti-oxidant Defences in Cells Derived from Patients with Friedreich's Ataxia. Dey R, Kemp K, Gray E, Rice C, Scolding N, Wilkins A.; Cerebellum. 2012 Jul 24

 Keywords: Friedreich's ataxia (FRDA), Oxidative damage, oxidative stress, frataxin deficiency, bone marrow-derived mesenchymal stem cells (MSCs), superoxide dismutase (1 and 2) enzymes, conditioned medium from human MSCs, nitric oxide-induced oxidative stress, PI(3) kinase/Akt.

Genetic testing in neurology

Genetic testing in neurology. Victoria Harrison, Andrea H. Nemeth; Medicine Volume 40, Issue 8, August 2012, Pages 463–467. DOI: http://dx.doi.org/10.1016/j.mpmed.2012.05.009

 Keywords: carrier testing, confidentiality, consent, diagnostic testing, genetic testing, neurogenetics, neurology, presymptomatic testing.

Ataxia

Ataxia. Georgina Burke, Simon Hammans. Medicine, Volume 40, Issue 8, August 2012, Pages 435–439. DOI: http://dx.doi.org/10.1016/j.mpmed.2012.05.004.

Keywords: ataxia, cerebellum, Creutzfeldt–Jakob disease, Friedreich's, multiple sclerosis, paraneoplastic, proprioception, spinocerebellar ataxia.

Role of resveratrol and its analogues in the treatment of neurodegenerative diseases: focus on recent discoveries.

Role of resveratrol and its analogues in the treatment of neurodegenerative diseases: focus on recent discoveries.V. Foti Cuzzola, R. Ciurleo, S. Giacoppo, S. Marino, P. Bramanti. CNS Neurol Disord Drug Targets. 2011 Nov;10(7):849-62. Keywords: Neurodegenerative diseases, inflammatory mechanism, blood-brain barrier, Resveratrol (RSV), cardio- and neuro-protection, immune regulation, cancer chemoprevention, tumor necrosis factor, cyclooxygenase 2, inducible nitric oxide synthase, interleukins.

European Medicines Agency gives first approval of gene therapy for rare disease

European Medicines Agency recommends first gene therapy for approval. European Medicines Agency, Press release 20/07/2012  

Gene therapy is a great hope for rare diseases of genetic origin, such as Friedreich's ataxia. This is a big step, gene therapy can come out the research laboratories and may be sold by a pharmaceutical laboratory, this authorization would boost the interest of pharmaceutical companies to invest in the development of these therapies.

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Gene, Stem Cell, and Future Therapies for Orphan Disease

State of the Art. Gene, Stem Cell, and Future Therapies for Orphan Disease. M Ian Phillips. Clinical Pharmacology & Therapeutics (2012); 92 2, 182–192. doi:10.1038/clpt.2012.82

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The central role and mechanisms of β-cell dysfunction and death in Friedreich's ataxia-associated diabetes

The central role and mechanisms of β-cell dysfunction and death in Friedreich's ataxia-associated diabetes. Miriam Cnop, Mariana Igoillo-Esteve, Myriam Rai, Audrey Begu, Yasmina Serroukh, Chantal Depondt, Anyishai E Musuaya, Ihsane Marhfour, Laurence Ladrière, Xavier Moles Lopez, Dionysios Lefkaditis, Fabrice Moore, Jean-Pierre Brion, J Mark Cooper, Anthony HV Schapira, Anne Clark, Arnulf H Koeppen, Piero Marchetti, Massimo Pandolfo, Décio L Eizirik and Françoise Féry.  Annals of Neurology. Accepted manuscript online: 20 JUL 2012. DOI: 10.1002/ana.23698

Keywords: Friedreich's ataxia (FRDA), neurodegenerative disease, frataxin gene, diabetes, insulin resistance, β-cell failure, disposition index, Pancreatic β-cell dysfunction, mitochondrial dysfunction.

The Role of Academic Institutions in the Development of Drugs for Rare and Neglected Diseases

The Role of Academic Institutions in the Development of Drugs for Rare and Neglected Diseases. L D Coles and J C Cloyd. Clinical Pharmacology & Therapeutics (2012); 92 2, 193–202. doi:10.1038/clpt.2012.83.

The Future of Orphan Drug Development

The Future of Orphan Drug Development. J Woodcock. Clinical Pharmacology & Therapeutics (2012); 92 2, 146–148. doi:10.1038/clpt.2012.89

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Skeletal Muscle Involvement in Friedreich Ataxia and Potential Effects of Recombinant Human Erythropoietin Administration on Muscle Regeneration and Neovascularization

Skeletal Muscle Involvement in Friedreich Ataxia and Potential Effects of Recombinant Human Erythropoietin Administration on Muscle Regeneration and Neovascularization. Nachbauer W, Boesch S, Reindl M, Eigentler A, Hufler K, Poewe W, Löscher W, Wanschitz J.;J Neuropathol Exp Neurol. 2012 Jul 16.

Keywords: Friedreich ataxia (FRDA), frataxin, cardiac muscle involvement, mitochondrial dysfunction, skeletal muscle, recombinant human erythropoietin (rhuEPO), neurogenic and myopathic changes.