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DESIGN OF HYPOXIA STRATEGY AS A TREATMENT OF FRIEDREICH’S ATAXIA, Unpublished paper, José Luis García Giménez, Abstract "Premi Científico-Tècnic Ciutat d’Algemessí.", 2012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

Full text PDF ( English Abstract on page 9 )

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