Normal left ventricular ejection fraction and mass but subclinical myocardial dysfunction in patients with Friedreich's ataxia.

Eur J Echocardiogr. 2011 Nov 28.

Dedobbeleer C, Rai M, Donal E, Pandolfo M, Unger P.
Department of Cardiology, Erasme Hospital, Université Libre de Bruxelles, 808 Rte de Lennik, Brussels 1070, Belgium.

Keywords: Myocardial involvement, Friedreich's ataxia (FRDA), iron deposits, diffuse fibrosis, focal necrosis.

There is evidence of morphological and functional abnormalities in FRDA patients with normal LVEF and mass.

Specialized Function of Yeast Isa1 and Isa2 Proteins in the Maturation of Mitochondrial [4Fe-4S] Proteins

J. Biol. Chem. 2011 286: 41205-41216. First Published on October 10, 2011, doi:10.1074/jbc.M111.296152

Ulrich Mühlenhoff,
Nadine Richter,
Ophry Pines,
Antonio J. Pierik,
and Roland Lill


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FXN methylation predicts expression and clinical outcome in friedreich ataxia

Annals of Neurology, Accepted manuscript online: 25 NOV 2011 08:37AM EST | DOI: 10.1002/ana.22671

Marguerite V. Evans-Galea, Nissa Carrodus, Simone M. Rowley, Louise A. Corben, Geneieve Tai, Richard Saffery, John C. Galati, Nicholas C. Wong, Jeffrey M. Craig, David R. Lynch, Sean Regner, Alicia F. D. Brocht, Susan L. Perlman, Khalaf O. Bushara, Christopher M. Gomez, George R. Wilmot, Lingli Li, Elizabeth Varley, Martin B. Delatycki and Joseph P. Sarsero

Keywords: Friedreich ataxia (FRDA), expanded GAA repeat, frataxin, epigenetic, clinical parameters, DNA methylation, age of onset, Friedreich Ataxia Rating Scale, disease severity, biomarker.

A TAT-Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich’s Ataxia mouse model

Hum. Mol. Genet. (2011) doi: 10.1093/hmg/ddr554

Piyush M. Vyas, Wendy J. Tomamichel, P. Melanie Pride, Clifford M. Babbey, Qiujuan Wang, Jennifer Mercier, Elizabeth M. Martin, and R. Mark Payne

Keywords:Friedreich’s Ataxia (FRDA), frataxin, iron-sulfur (Fe-S) cluster, progressive ataxia, fatal cardiomyopathy, TAT-Frataxin (TAT-FXN) fusion protein, reduced caspase 3 activation, iron oxidant stress, aconitase, heart, protein replacement therapy.

Cardiomyopathy in Friedreich’s Ataxia

Acta Neurologica Belgica, N° 3 (Vol. 111/3) p.183-187, 2011.

Faisal Rahman and Massimo Pandolfo
The John Radcliffe Hospital, Oxford, UK; Service de Neurologie, Hôpital Erasme - Université Libre de Bruxelles, Brussels, Belgium

Keywords: Friedreich’s ataxia (FRDA), spinocerebellar degeneration, cardiomyopathy, frataxin, iron, iron-sulphur clusters, oxidative stress.

Exploring frataxin function.

IUBMB Life. 2011 Nov 17. doi: 10.1002/iub.577. [Epub ahead of print]

Busi MV, Gomez-Casati DF.

Centro de Estudios Fotosintéticos y Bioquímicos (CEFOBI-CONICET), Universidad Nacional de Rosario, Suipacha 531, 2000, Rosario, Argentina and Instituto de Investigaciones Biotecnológicas (IIB-INTECH), Universidad Nacional de General San Martín (UNSAM), Argentina.

Keywords: Frataxin, nuclear-encoded mitochondrial protein, phenotype of Friedreich's ataxia, Fe-S cluster, heme synthesis, energy conversion, oxidative phosphorylation, iron handling, oxidative damage.

Ophthalmic features of Friedreich ataxia

Eye , (18 November 2011) | doi:10.1038/eye.2011.291
Clinical Study

S Noval, I Contreras, I Sanz-Gallego, R K Manrique and J Arpa

"The study show that the visual pathway is affected in FRDA. However, in most patients there is no significant visual impairment"

Keywords: ocular abnormalities,Friedreich ataxia (FRDA), prospective cohort, extensive ophthalmologic examination, low-contrast Sloan letter charts test, retinal nerve fiber layer (RNFL) thickness analysis, optical coherence tomography (OCT).

Primary and Secondary Drug Screening Assays for Friedreich Ataxia.

J Biomol Screen. 2011 Nov 15. [Epub ahead of print]

Cotticelli MG, Rasmussen L, Kushner NL, McKellip S, Sosa MI, Manouvakhova A, Feng S, White EL, Maddry JA, Heemskerk J, Oldt RJ, Surrey LF, Ochs R, Wilson RB.

Keywords: Friedreich ataxia (FRDA), neuro- and cardiodegenerative disorder, frataxin, decreased ISC assembly, mitochondrial iron accumulation, increased oxidative stress, tetrazolium dye WST-1, compounds screen.

Towards a modern definition of vitamin E– evidence for a quinone hypothesis

Bioorganic & Medicinal Chemistry Letters, In Press, Accepted Manuscript, doi:10.1016/j.bmcl.2011.10.117

William D. Shrader a, Akiko Amagata a, Adam Barnes a, Andrew Hinman a, Orion Jankowski a, Edgar Lee a, Viktoria Kheifets a, Ryo Komatsuzaki a, Paul Mollard a, Katsuyuki Murase a, Patrice Rioux c, Kieron Wesson a, Guy Miller a, b

a Edison Pharmaceuticals, Inc., 350 North Bernardo Avenue, Mountain View, CA 94043, USA
b Adjunct Clinical Instructor;Department of Anesthesiology, Critical Care Medicine, Stanford University, Stanford, CA 94305, USA
c Raptor Pharmaceutical Corp. 9 Commercial Blvd., Suite 200 Novato, CA 94949

"has demonstrated a beneficial clinical response in patients with Friedreich’s ataxia"

Keywords: tocoquinone natural product, α-tocopherol quinone (ATQ), α-tocopherol,cellular protectant, oxidative stress, orally bioavailable, pharmacokinetic profile, Friedreich’s ataxia.

New orphan medicinal product designation for Friedreich's Ataxia

10 October 2011, EMA/COMP/811210/2011, Human Medicines Development and Evaluation,
Monthly report, The Committee for Orphan Medicinal Products held its 127th plenary meeting on 5-7 October 2011.

Interferon gamma for treatment of Friedreich’s ataxia, Prof. Roberto Testi.