A pilot trial of deferiprone for neurodegeneration with brain iron accumulation

haematol November 1, 2011 vol. 96 no. 11 1708-1711, doi: 10.3324/haematol.2011.043018

Giovanni Abbruzzese,Giovanni Cossu, Manuela Balocco, Roberta Marchese, Daniela Murgia, Maurizio Melis, Renzo Galanello, Susanna Barella, Gildo Matta, Uberto Ruffinengo, Ubaldo Bonuccelli and
Gian Luca Forni.

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Pharmacology: New methods to permeabilize the blood–brain barrier

Nature Reviews Neurology 7, 597 (November 2011) | doi:10.1038/nrneurol.2011.161

Katy Malpass.

Keywords: animal models, tight vascular endothelial junctions, blood–brain barrier (BBB), drug delivery to the brain, neurological disorders.

Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders

Molecular Therapy (2011); 19 11, 1971–1980. doi:10.1038/mt.2011.157

Adam K Bevan1,2, Sandra Duque3, Kevin D Foust1, Pablo R Morales4, Lyndsey Braun1, Leah Schmelzer1, Curtis M Chan5, Mary McCrate1,6, Louis G Chicoine1,6, Brian D Coley7, Paul N Porensky3,8, Stephen J Kolb3,9, Jerry R Mendell1,6,9, Arthur HM Burghes2,3 and Brian K Kaspar1,2,3,6,10

1Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA
2Integrated Biomedical Sciences Graduate Program, The Ohio State University, Columbus, Ohio, USA
3Department of Molecular and Cellular Biochemistry, The Ohio State University, Columbus, Ohio, USA
4The Mannheimer Foundation, Inc., Homestead, Florida, USA
5Special Pathology Services, Charles River, Preclinical Services, Reno, Nevada, USA
6Department of Pediatrics, The Ohio State University/Nationwide Children's Hospital, Columbus, Ohio, USA
7Department of Radiology, The Ohio State University, Columbus, Ohio, USA
8Department of Neurological Surgery, The Ohio State University, Columbus, Ohio, USA
9Department of Neurology, The Ohio State University, Columbus, Ohio, USA
10Department of Neurosciences, The Ohio State University, Columbus, Ohio, USA

Our findings support the use of AAV9 for gene transfer to the CNS for disorders in pediatric populations.

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Specific Alterations of Carbohydrate Metabolism Are Associated With Hepatocarcinogenesis in Mitochondrially Impaired Mice

Hum. Mol. Genet. (2011) doi: 10.1093/hmg/ddr499

René Thierbach, Simone Florian, Katharina Wolfrum, Anja Voigt, Gunnar Drewes, Urte Blume, Peter Bannasch, Michael Ristow, Pablo Steinberg

Keywords: Friedreich's ataxia, AlbFxn-/- mice, ATP, carbohydrate metabolism, Frataxin, gene disruption, glucose-6-phosphate, glucose transport, glycogen, glycolysis, mitochondria.

Friedreich Ataxia - Pipeline Review, H2 2011

Published by Global Markets Direct on Oct 26, 2011 , 54 pages

This report provides an overview on the therapeutic development for Friedreich Ataxia, it show the Friedreich Ataxia therapeutic pipeline, with latest updates, and late-stage and discontinued projects.

The Role of Mitochondrial Dysfunction in the Pathogenesis of Friedreich's Ataxia

Egypt J. Neurol. Psychiat. Neurosurg. July 2011 Vol. 48 3 : 229 - 234

Hasan G. Nassar,Wael A. Fadel,Wafaa Ibrahim,Wafik S Bahnasy

Keywords: Friedreich's ataxia, Glutathione, Mitochondrial Complexes.

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Evaluation of Myocardial Motion in Friedreich Ataxia Patients and Healthy Volunteers by High Temporal and Spatial Resolution MRI Tissue Phase-mapping Imaging

RSNA Meeting, November 25-30, McCormick Place, Chicago, Illinois
Scientific Informal (Poster) Presentations

Author List: Karsten Kortuem | Christian Oliver Ritter MD | Frank Weidemann | Herbert Koestler PhD | Dietbert Hahn MD | Meinrad Johannes Beer MD

Oligomerization propensity and flexibility of yeast frataxin studied by X-ray crystallography and small-angle X-ray scattering

Journal of Molecular Biology, In Press, Accepted Manuscript, doi:10.1016/j.jmb.2011.10.034

Christopher A.G. Söderberg a, [1], Alexander V. Shkumatov b, 2, Sreekanth Rajan a, Oleksandr Gakh c, Dmitri I. Svergun b, Grazia Isaya c,, Salam Al-Karadaghi a.
a Center for Molecular Protein Science, Institute for Chemistry and Chemical Engineering, Lund University, PO Box 124, SE-221 00 Lund, Sweden
b EMBL, Hamburg Outstation, Notkestraße 85, D-22603 Hamburg, Germany
c Department of Pediatric and Adolescent Medicine and Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA

Keywords: Protein oligomerization; Protein flexibility; metal chaperone; Friedreich's ataxia; Neurodegenerative diseases

The cerebellar cognitive profile

Brain (2011) first published online October 27, 2011 doi:10.1093/brain/awr266

Anna M. Tedesco, Francesca R. Chiricozzi, Silvia Clausi, Michela Lupo, Marco Molinari, and Maria G. Leggio

Keywords: cerebellar role in non-motor functions, cerebellar cognitive affective syndrome, cerebellar damage, ataxia, cerebellum, cognition.

Pioglitazone and bladder cancer

In France, is currently running Friedreich's Ataxia clinical trial with Pioglitazone

The Lancet, Volume 378, Issue 9802, Pages 1543 - 1544, 29 October 2011

Dominique Hillaire-Buys a bEmail Address, Jean-Luc Faillie b c, Jean-Louis Montastruc d e

a CHRU Montpellier, Department of Medical Pharmacology and Toxicology, Lapeyronie Hospital, 34295 Montpellier, France
b Faculty of Medicine, University of Montpellier 1, Montpellier, France
c CHU Nîmes, Department of Epidemiology and Clinical Research, Nîmes University Hospital, Nîmes, France
d CHRU Toulouse, Department of Clinical Pharmacology, Toulouse University Hospital, Toulouse, France
e Department of Pharmacoepidemiology INSERM U1027, Faculty of Medicine, University of Toulouse, Toulouse, France

Keywords: Pioglitazone, peroxisome-proliferator-activated receptor (PPAR)agonist, oral hypoglycaemic drug, bladder cancer, US Food and Drug Administration (FDA), FDA Adverse Event Reporting System, European Medicines Agency.

Pioglitazone and bladder cancer

The Lancet, Volume 378, Issue 9802, Page 1544, 29 October 2011, doi:10.1016/S0140-6736(11)61663-2

Robert Elford Ryder
Department of Diabetes and Endocrinology, City Hospital, Birmingham B18 7QH, UK

Keywords: French and German regulatory bodies, risk of bladder cancer, European Medicines Agency (EMA), increased fractures, heart failure, type 2 diabetes, cardiovascular benefit.

"Despite the EMA's conclusion over bladder cancer risk, the overall risk—benefit balance remains strongly in favour of continued use of pioglitazone, especially in patients with ischaemic heart disease (but without heart failure) or stroke"

Pioglitazone and bladder cancer — Authors' reply

Erland Erdmann a, John A Dormandy b, Massimo Massi-Benedetti c, Robert Spanheimer