Prevalence of ataxia in children

Prevalence of ataxia in children. Kristin E. Musselman, Cristina T. Stoyanov, Rhul Marasigan, Mary E. Jenkins, Jürgen Konczak, Susanne M. Morton, and Amy J. Bastian; Neurology January 7, 2014 vol. 82 no. 1 80-89, doi: 10.1212/01.wnl.0000438224.25600.6c

The prevalence of childhood ataxias in Europe was estimated to be ∼26/100,000 children and likely reflects a minimum prevalence worldwide. The findings show that ataxia is a common childhood motor disorder with a higher prevalence than previously assumed.

Càpsules de Ciència. Joaquim Ros

Reconciling uncertainty of costs and outcomes with the need for access to orphan medicinal products: a comparative study of managed entry agreements across seven European countries

Reconciling uncertainty of costs and outcomes with the need for access to orphan medicinal products: a comparative study of managed entry agreements across seven European countries. Thomas Morel, Francis Arickx, Gustaf Befrits, Paolo Siviero, Caroline van der Meijden, Entela Xoxi and Steven Simoens; Orphanet Journal of Rare Diseases 2013, 8:198 doi:10.1186/1750-1172-8-198

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Tandem Repeat Modification during Double-Strand Break Repair Induced by an Engineered TAL Effector Nuclease in Zebrafish Genome

Tandem Repeat Modification during Double-Strand Break Repair Induced by an Engineered TAL Effector Nuclease in Zebrafish Genome. Huang W, Zheng J, He Y, Luo, PLoS ONE 8(12): e84176. doi:10.1371/journal.pone.0084176

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Dysphagia and swallowing-related quality of life in Friedreich ataxia

Dysphagia and swallowing-related quality of life in Friedreich ataxia. Adam P. Vogel, Sophie E. Brown, Joanne E. Folker, Louise A. Corben, Martin B. Delatycki;
Journal of Neurology, December 2013. DOI 10.1007/s00415-013-7208-4

Keywords: Dysphagia, Friedreich ataxia (FRDA), quality of life, oral-motor examination, speech and swallowing, incoordination, weakness, spasticity.

Role of Frataxin, a Protein Implicated in Friedreich Ataxia, in Making Iron-Sulfur Clusters

Role of Frataxin, a Protein Implicated in Friedreich Ataxia, in Making Iron-Sulfur Clusters. The Journal of Biological Chemistry, 288, 36787. December 27, 2013; 10.1074/jbc.P113.525857

The authors concluded that their work “may help develop a drug for treating Friedreich ataxia associated with frataxin deficiency.”

See referenced article: Frataxin Directly Stimulates Mitochondrial Cysteine Desulfurase by Exposing Substrate-binding Sites, and a Mutant Fe-S Cluster Scaffold Protein with Frataxin-bypassing Ability Acts Similarly. J. Biol. Chem. 2013, 288, 36773–36786.

Common defects of mitochondria and iron in neurodegeneration and diabetes (MIND): A paradigm worth exploring

Common defects of mitochondria and iron in neurodegeneration and diabetes (MIND): A paradigm worth exploring; Matthew Stroh, Russell H. Swerdlow, Hao Zhu; Biochemical Pharmacology, Available online 19 December 2013.

Erythropoietin and the heart: Physiological effects and the therapeutic perspective

Erythropoietin and the heart: Physiological effects and the therapeutic perspective. Fabian Sanchis-Gomar, José Luis Garcia-Gimenez, Helios Pareja-Galeano, Marco Romagnoli, Carme Perez-Quilis, Giuseppe Lippi; International Journal of Cardiology, Available online 18 December 2013, http://dx.doi.org/10.1016/j.ijcard.2013.12.011

Keywords: Myocardial infarction; cardioprotection; remodelling; EpoR; angiogenesis; apoptosis; inflammation; pleiotropic actions; Friedreich’s ataxia

If rhEpo or its analogues improve(s) the muscle and mitochondrial function it would help improve the cardiac function. However, none of these studies and clinical trials mentioned the long-term effect of rhEpo on the heart of FRDA. Thus, an effort designing a clinical trial involving treatments a long term in FRDA patients are strongly recommended.

The role of iron and reactive oxygen species in cell death

The role of iron and reactive oxygen species in cell death. Scott J Dixon & Brent R Stockwell; Nature Chemical Biology, 10, 9–17(2014), doi:10.1038/nchembio.1416; Published online 17 December 2013

Keywords: iron, potentially toxic iron-catalyzed reactive oxygen species (ROS), cell death, ferroptosis, cancer, organ damage,degenerative disease.

Vitamin E is essential for Purkinje neuron integrity

Vitamin E is essential for Purkinje neuron integrity. L. Ulatowski, R. Parker, G. Warrier, R. Sultana, D.A. Butterfield, D. Manor; Neuroscience, Available online 14 December 2013. http://dx.doi.org/10.1016/j.neuroscience.2013.12.001

Keywords: Vitamin E; Tocopherol; Purkinje neuron; Cerebellum; Ataxia; Oxidative stress

Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells

Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells. Yee-Ki Lee, Philip Wing-Lok Ho, Revital Schick, Yee-Man Lau, Wing-Hon Lai, Ting Zhou, Yanhua Li, Kwong-Man Ng, Shu-Leung HO, Miguel Angel Esteban,
Ofer Binah, Hung-Fat Tse, Chung-Wah Siu; Pflügers Archiv - European Journal of Physiology, December 2013

Keywords: Friedreich ataxia (FRDA), hypertrophic cardiomyopathy, frataxin, FRDA-cardiac cellular models, iron homeostasis, calcium homeostasis, contractile force.

REGIONAL SIDEROSIS: A NEW CHALLENGE FOR IRON CHELATION THERAPY

REGIONAL SIDEROSIS: A NEW CHALLENGE FOR IRON CHELATION THERAPY. Cabantchik Zvi Ioav, Munnich Arnold, Youdim Moussa B., Devos David; Frontiers in Pharmacology, Paper pending published: 09 Dec 2013

Keywords: Iron, chelation, neurodegeneration, Anemia, Friedreich Ataxia, Parkinson Disease, deferiprone

Italy blocks controversial stem cell therapy

Italy blocks controversial stem cell therapy. Nature Biotechnology 31, 1062 (2013); doi:10.1038/nbt1213-1062a
Published online 06 December 2013

The Italian government withdrew its support for a controversial stem cell therapy trial before it was due to start, prompting an outcry from patients. The decision was announced by Health Minister Beatrice Lorenzin on October 10, after an ad hoc scientific committee deemed the treatment too risky and undefined. In…

Meritxell Teixidó: "People affected by Friedreich’s ataxia have come looking for us "

Meritxell Teixidó: "People affected by Friedreich’s ataxia have come looking for us ". IRB Barcelona in the media

Meritxell Teixidó, research associate with the Peptides and Proteins group lead by Ernest Giralt, is interviewed on Radio 4 about the gene therapy project on Friedreich's Ataxia that has just started in collaboration between IRB Barcelona and CBMSO in Madrid. This project is financed by donations through the Genefa Platform and two other patients' organizations, in an iniatitive lead by these associations.

Listen to the interview with Meritxell Teixidó here L'Observatori (from minute 13.50 to minute 21.55)(CAT)

A Patient’s Journey: Friedreich ataxia

A Patient’s Journey: Friedreich ataxia. Peter Gibilisco, research fellow, patient, Adam P Vogel, senior research fellow; BMJ 2013; 347 doi: http://dx.doi.org/10.1136/bmj.f7062 (Published 3 December 2013)

This patient describes his experience of Friedreich ataxia, from diagnosis at 14 years old to being confined to a wheelchair for nearly 30 years and developing serious problems with speech and swallowing.

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Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions

Trouble with ataxia: A longitudinal qualitative study of the diagnosis and medical management of a group of rare, progressive neurological conditions . Gavin Daker-White, John Ealing, Julie Greenfield, Helen Kingston, Caroline Sanders, Katherine Payne; SAGE Open Medicine January - December 2013 vol. 1 2050312113505560

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