Scoliosis in patients with Friedreich's ataxia.

Scoliosis in patients with Friedreich's ataxia., J Bone Joint Surg Br. 2012 May;94(5):684-9. Tsirikos AI, Smith G. Scottish National Spine Deformity Centre, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 1LF, UK. doi: 10.1302/0301-620X.94B5.28391 Keywords: Friedreich's ataxia, scoliosis, thoracic curvatures, thoracolumbar, double thoracic/lumbar, pelvic obliquity, hyperkyphosis.

DESIGN OF HYPOXIA STRATEGY AS A TREATMENT OF FRIEDREICH’S ATAXIA

DESIGN OF HYPOXIA STRATEGY AS A TREATMENT OF FRIEDREICH’S ATAXIA, Unpublished paper, José Luis García Giménez, Abstract "Premi Científico-Tècnic Ciutat d’Algemessí.", 2012


Friedreich’s ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness, speech problems to heart disease. There is currently no effective treatment for Friedreich’s ataxia. However, many of the symptoms accompanying complications can be treated to help patients maintain optimal functioning as long as possible. There are possible treatments for the different symptoms. For example, diuretic and antiarrhythmic drugs to treat the cardiomyophaty can be used.
Drugs such as recombinant human erythropoietin (rHuEPO) have shown the capability to increase frataxin levels in primary fibroblasts cell cultures derived from Friedreich’s ataxia patients (Acquaviva F. et al. 2008). Clinical pilot trials using rHuEPO in FRDA patients indicate that frataxin levels increase, while indicators of oxidative stress decreased significantly (Boeschs S., et al. 2008). But the use of rHuEPO could have various contraindications depending on the nature of each individual. Specially, rHuEPO is a prohibitively expensive treatment, restrictive for FRDA patients and very expensive for public administrations.
We propose a novel method set in the hypoxia as a "non-invasive" and “easy to use” treatment for Friedreich's ataxia. This protocol should cover different fronts of the disease. It may stimulate the expression of endogenous erythropoietin and consequently the expression of frataxin, the molecular cause of the FRDA.
Therefore, hypoxia is presented as a therapeutic tool that can improve the physiopathological features of the disease because it can stimulate the expression of endogenous EPO, a glycoprotein hormone that it has shown beneficial effects in Friedreich’s ataxia.

Coming into view: Eukaryotic iron chaperones and intracellular iron delivery.

Coming into view: Eukaryotic iron chaperones and intracellular iron delivery. Caroline C. Philpott. April 20, 2012 The Journal of Biological Chemistry, 287, 13518-13523. doi: 10.1074/jbc.R111.326876

Keywords: Iron Metabolism, Iron-Sulfur Protein, Metalloenzymes, Metalloproteins, Protein-Metal Ion Interaction, Frataxin, Glutaredoxin, Iron Chaperone, Poly(rC)-binding Protein.

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Antioxidants and other pharmacological treatments for Friedreich ataxia.

Antioxidants and other pharmacological treatments for Friedreich ataxia. Kearney M, Orrell RW, Fahey M, Pandolfo M. Cochrane Database of Systematic Reviews 2012, Issue 4. Art. No.: CD007791. DOI: 10.1002/14651858.CD007791.pub3.

Keywords: Friedreich ataxia, efficacy of antioxidants, pharmacological treatments, idebenone treatment, compared to placebo.

Structural and Functional Studies of the Mitochondrial Cysteine Desulfurase from Arabidopsis thaliana.

Structural and Functional Studies of the Mitochondrial Cysteine Desulfurase from Arabidopsis thaliana. Valeria R. Turowski, Maria V. Busi, and Diego F. Gomez-Casati. Mol. Plant first published online April 17, 2012 doi:10.1093/mp/sss037

Keywords: AtNfs1, Arabidopsis thaliana, bacterial cysteine desulfurases, NifS, IscS, Fe–S cluster assembly, IscS, Arabidopsis frataxin (AtFH), plant mitochondria.

Movement disorders: Interferon-γ shows promise in a mouse model of Friedreich ataxia

Movement disorders: Interferon-γ shows promise in a mouse model of Friedreich ataxia. Tomassini et al., Nature Reviews Neurology , | doi:10.1038/nrneurol.2012.74

Idebenone for the treatment of Friedreich´s ataxia

Now in Catalonia (Spain), the Idebenone is out of the National Health System (CatSalut), so far, the doctors could prescribe it, and the patients did not pay for the Idebenone , within the context of the current crisis the cuts are tremendous , and the Idebenone also was hit.
To achieve this, they shield in a rigorous scientific studies based on standard evaluation methodologies .... but help them to achieve their goals, stop paying for idebenone!. With this evaluation methodologies the studies selection and the graded are terrible, only those with bad results are considered right....and without listening the advices of the doctors experts in FA.

Gómez D, Paladio N. Idebenona per al tractament de l‟atàxia de Friedreich. Barcelona: Agència d‟Informació, Avaluació i Qualitat en Salut. Servei Català de la Salut. Departament de Salut. Generalitat de Catalunya; 2012.

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363 Cardiac effect of high doses idebenone therapy compared to low doses in patients with friedreich ataxia

363 Cardiac effect of high doses idebenone therapy compared to low doses in patients with friedreich ataxia. D. Velasco Sanchez, J. Thérien, M. Vanasse, N. Dahdah, A. Fournier. Montréal, QuébecCanadian Journal of Cardiology
Volume 27, Issue 5, Supplement , Pages S192-S193, September 2011

Keywords: Heart involvement in Friedreich's ataxia (FRDA), progressive hypertrophic cardiomyopathy, idebenone, high dose idebenone (Hi-IDB), low dose of idebenone (Lo-IDB), paediatric FDRA patients, clinical and echocardiographic data -systolic and diastolic function, left ventricular wall thickness and mass index (LVMi), statistically significant LVMi reduction, improved mitral deceleration time with Hi-IDB.

Friedreich’s Ataxia and Gait Changes through Participation in Therapeutic Horseback Riding

Friedreich’s Ataxia and Gait Changes through Participation in Therapeutic Horseback Riding. Katherine J. Gilliland and Adam C. Knight Department of Kinesiology, Mississippi State University, Mississippi State, Mississippi. Clinical Kinesiology 66(1); Spring, 2012

Keywords: gait analysis, equine assisted therapy, neurological disorder, therapeutic horseback riding, Friedreich’s Ataxia (FA).

Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich ataxia.

Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich ataxia. Sarah C. Milne, Emma J. Campagna, Louise A. Corben, Martin B. Delatycki, Kwong Teo, Andrew J. Churchyard, Terry P. Haines. Archives of Physical Medicine and Rehabilitation , 05 April 2012 (doi: 10.1016/j.apmr.2012.03.026).

Keywords: Friedreich ataxia, rehabilitation, intervention, Functional Independence Measure, outcome

"Habitual intake of dietary flavonoids and risk of Parkinson disease"

"Habitual intake of dietary flavonoids and risk of Parkinson disease"; X. Gao, A. Cassidy, M.A. Schwarzschild, E.B. Rimm, and A. Ascherio; Neurology WNL.0b013e31824f7fc4; published online ahead of print 4 April 2012; DOI:10.1212/WNL.0b013e31824f7fc4;

"Parkinson's disease is a neurological disease very different from the FA, but this statistical study shows what people have known since long time, the Flavonoids have a slight neuroprotective effect. It may be interesting to add these products to our diet, are harmless and also much more pleasant than the pills."

Explanation in simple terms:
Eating Berries May Lower Men's Parkinson's Risk, www.medicalnewstoday.com. Article Date: 06 Apr 2012

Does chromatin modulation provide the first wet biomarker for Huntington's disease?

Does chromatin modulation provide the first wet biomarker for Huntington's disease?. Reilmann, R. (2012), Mov. Disord., 27: 473. doi: 10.1002/mds.24914

No abstract is available for this article.

Iron Efflux from Astrocytes Plays a Role in Remyelination

Iron Efflux from Astrocytes Plays a Role in Remyelination. Katrin Schulz,
Antje Kroner, and Samuel David. The Journal of Neuroscience, 4 April 2012, 32(14): 4841-4847; doi: 10.1523/​JNEUROSCI.5328-11.2012

Centre for Research in Neuroscience, The Research Institute of the McGill University Health Center, Montreal, Québec H3G 1A4, Canada

Keywords: iron, myelination, astrocytes, remyelination, ferroportin (Fpn), microglia, cytokines (TNF-α and IL-1β), FGF-2, IL-1β, IGF-1, TNF-α.

Estrogen Prevents Oxidative Damage to the Mitochondria in Friedreich's Ataxia Skin Fibroblasts

Estrogen Prevents Oxidative Damage to the Mitochondria in Friedreich's Ataxia Skin Fibroblasts. Richardson TE , Yu AE , Wen Y , Yang S-H , Simpkins JW (2012), PLoS ONE 7(4): e34600. doi:10.1371/journal.pone.0034600.

Abstrac:
Estrogen and estrogen-related compounds have been shown to have very potent cytoprotective properties in a wide range of disease models, including an in vitro model of Friedreich's ataxia (FRDA). This study describes a potential estrogen receptor (ER)-independent mechanism by which estrogens act to protect human FRDA skin fibroblasts from a BSO-induced oxidative insult resulting from inhibition of de novo glutathione (GSH) synthesis. We demonstrate that phenolic estrogens, independent of any known ER, are able to prevent lipid peroxidation and mitochondrial membrane potential (ΔΨm) collapse, maintain ATP at near control levels, increase oxidative phosphorylation and maintain activity of aconitase. Estrogens did not, however, prevent BSO from depleting GSH or induce an increased expression level of GSH. The cytoprotective effects of estrogen appear to be due to a direct overall reduction in oxidative damage to the mitochondria, enabling the FRDA fibroblast mitochondria to generate sufficient ATP for energy requirements and better survive oxidative stress. These data support the hypothesis that phenol ring containing estrogens are possible candidate drugs for the delay and/or prevention of FRDA symptoms.

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Rare diseases and orphan drugs

Rare diseases and orphan drugs, Irena Melnikova, Nature Reviews Drug Discovery 11, 267-268 (April 2012) | doi:10.1038/nrd3654

It is now widely recognized that rare diseases provide attractive niche opportunities for biopharmaceutical companies

Since 1983 when the Orphan Drug Act (ODA) was approved in the United States to promote the development of treatments for rare diseases more than 2,500 small molecules and biologics have been designated as orphan drugs, and currently, for a wide variety of rare diseases there are 460 medicines in clinical trials. The economic incentives for the industry, such as 7 years of market exclusivity, tax credits for certain development costs and application fee waivers helped to get this success, Japan, Australia and the European Union health autorities also worked in the same direction.

Over 80% of rare diseases are genetic in origin, they need a very different aproach, major strategies include: enzyme replacement, gene therapy or manipulation of gene expression.

Key Enzyme Involved in Protecting Nerves from Degeneration Identified

Key enzyme involved in protecting nerves from degeneration identified. University of Pennsylvania (2012, March 30). ScienceDaily. Retrieved April 3, 2012, from http://www.sciencedaily.com­ /releases/2012/03/120330164852.htm

Their results, taken together with the findings of other studies, suggest that Nmnat may stabilize mitochondria in some way in order to keep axons in a healthy state.

Journal Reference: A Novel Drosophila Model of Nerve Injury Reveals an Essential Role of Nmnat in Maintaining Axonal Integrity. Yanshan Fang, Lorena Soares, Xiuyin Teng, Melissa Geary, Nancy M. Bonini. A Novel Drosophila Model of Nerve Injury Reveals an Essential Role of Nmnat in Maintaining Axonal Integrity. Current Biology, 2012; DOI: 10.1016/j.cub.2012.01.065