"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors.

"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors. Lowe GC, Corben LA, Duncan RE, Yoon G, Delatycki MB, J Genet Couns. 2015 Jan 17. [Epub ahead of print]

The dilemma of how to manage the desires of some individuals and families affected by FRDA to access testing, when there is a lack of professional consensus

Évolution des paramètres spatio-temporels de la marche dans l’ataxie de Friedreich. Étude sur une population de 31 jeunes marchants,

Évolution des paramètres spatio-temporels de la marche dans l’ataxie de Friedreich. Étude sur une population de 31 jeunes marchants. Bastien Roche, Isabelle Husson, Rodolphe Martin, Kinésithérapie, la Revue, Volume 15, Issue 158, February 2015, Pages 35-36, ISSN 1779-0123, http://dx.doi.org/10.1016/j.kine.2014.11.041.

Avec 1500 personnes touchées en France, l’ataxie de Friedreich est l’ataxie héréditaire à transmission autosomique récessive la plus courante.

ACTIMMUNE, Phase 3 clinical study will begin enrolling patients in the second quarter of 2015

ACTIMMUNE, Phase 3 clinical study will begin enrolling patients in the second quarter of 2015. StreetInsider.com, January 12, 2015

It is anticipated that approximately 110 subjects will be screened at four U.S. centers for eligibility to randomize approximately 90 subjects 1:1 to receive either ACTIMMUNE or placebo. The Company anticipates the study will take 18 months to complete.

Friedreich's footprint

Friedreich's footprint. Steven Goodrick, The Lancet Neurology, Volume 14, Issue 2, February 2015, Page 141, ISSN 1474-4422, http://dx.doi.org/10.1016/S1474-4422(15)70005-0.

We can only hope that the time to a treatment or cure will not be so long.

Mitochondrial proteases and protein quality control in ageing and longevity

Mitochondrial proteases and protein quality control in ageing and longevity. Marie-Paule Hamon, Anne-Laure Bulteau, Bertrand Friguet, Ageing Research Reviews, Available online 8 January 2015, ISSN 1568-1637, http://dx.doi.org/10.1016/j.arr.2014.12.010.

Concomitant increased Lon and ClpP levels and loss of mitochondrial Fe-S proteins have been found in the muscle creatine kinase mouse heart model for Friedreich ataxia. To our knowledge, no Lon mutation has been identified to date in patients enabling the determination of a phenotype associated with a Lon defect. Nevertheless, its involvement in age-related and other diseases may consider using it as target for anti-ageing strategy or disease treatments.

Variations in ClpP levels have been noted in hereditary spastic paraplegia and Friedreich ataxia. As for Lon, due to its its involvement in age-related and other diseases, the Clp protease may be considered as a target for disease treatments or anti-ageing strategy.

Friedreich Ataxia: Failure of GABA-ergic and Glycinergic Synaptic Transmission in the Dentate Nucleus.

Friedreich Ataxia: Failure of GABA-ergic and Glycinergic Synaptic Transmission in the Dentate Nucleus. Koeppen, Arnulf H. MD; Ramirez, R. Liane MS; Becker, Alyssa B. BA; Feustel, Paul J. PhD; Mazurkiewicz, Joseph E. PhD; Journal of Neuropathology & Experimental Neurology, January 8, 2015, doi: 10.1097/NEN.0000000000000160

Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability

Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability. Viktoria Désirée Paul, Roland Lill, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Available online 10 January 2015, ISSN 0167-4889, http://dx.doi.org/10.1016/j.bbamcr.2014.12.018.

Isotope-Reinforced Polyunsaturated Fatty Acids Protect Mitochondria from Oxidative Stress

Isotope-Reinforced Polyunsaturated Fatty Acids Protect Mitochondria from Oxidative Stress. Alexander Y. Andreyev, Hui S. Tsui, Ginger L. Milne, Vadim V. Shmanai, Andrei V. Bekish, Maksim A. Fomich, Minhhan N. Pham, Yvonne Nong, Anne N. Murphy, Catherine F. Clarke, Mikhail S. Shchepinov, Free Radical Biology and Medicine, Available online 8 January 2015, ISSN 0891-5849, http://dx.doi.org/10.1016/j.freeradbiomed.2014.12.023.

Gait and Balance in Adults with Friedreich's Ataxia

Gait and Balance in Adults with Friedreich's Ataxia. Jeannie Stephenson, Theresa Zesiewicz, Clifton Gooch, Lynn Wecker, Kelly Sullivan, Israt Jahan, Seok Hun Kim, Gait & Posture, Available online 8 January 2015, ISSN 0966-6362, http://dx.doi.org/10.1016/j.gaitpost.2015.01.002.

A novel model for brain iron uptake: introducing the concept of regulation

A novel model for brain iron uptake: introducing the concept of regulation. Ian A Simpson, Padmavathi Ponnuru, Marianne E Klinger, Roland L Myers, Kavi Devraj, Christopher L Coe, Gabriele R Lubach, Anthony Carruthers and James R Connor, Journal of Cerebral Blood Flow & Metabolism (2015) 35, 48–57; doi:10.1038/jcbfm.2014.168; published online 15 October 2014

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