Friedreich Ataxia Global Clinical Trials Review, H1, 2013

Friedreich Ataxia Global Clinical Trials Review, H1, 2013.

This report provides elemental information and data relating to the clinical trials on Friedreich Ataxia. It includes an overview of the trial numbers and their recruitment status as per the site of trial conduction across the globe.

The role of aberrant mitochondrial bioenergetics in diabetic neuropathy.

The role of aberrant mitochondrial bioenergetics in diabetic neuropathy. Chowdhury SK, Smith DR, Fernyhough P; Neurobiology of Disease [2013, 51:56-65]

The role of mitochondrial dysfunction in the etiology of diabetic neuropathy is compared with other types of neuropathy with a distal dying-back pathology such as Friedreich ataxia, Charcot-Marie-Tooth disease type 2 .....

Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database

Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database . Günther Metz, Nicholas Coppard, Jonathon M. Cooper, Martin B. Delatycki, Alexandra Dürr, Nicholas A. Di Prospero, Paola Giunti, David R. Lynch8, J. B. Schulz, Christian Rummey and Thomas Meier. Brain (2013) 136 (1): 259-268. doi: 10.1093/brain/aws309

Keywords: cross-sectional study, disease progression in Friedreich’s ataxia, International Cooperative Ataxia Rating Scale, function of disease duration, age of onset, GAA repeat lengths.

Subvention importante

Subvention importante . CAFA, Canadian Association for Familial Ataxias - Claude St-Jean Foundation.

Professor Jacques P. Tremblay and his team at the CHUL laboratory in Quebec has just received a grant of $ 160,000 from the Canadian Institutes of Health Research (CIHR) for the project of inducing the production of frataxin with TALE-VP64 targeting the promoter of this protein. This will help to intensify research on Friedreich's ataxia.

Magnetic Resonance Imaging and Spectroscopy of the Central Nervous System in Friedreich's Ataxia

Magnetic Resonance Imaging and Spectroscopy of the Central Nervous System in Friedreich's Ataxia.

University of Minnesota - Clinical and Translational Science Institute

ClinicalTrials.gov Identifier: NCT01776164
First received: January 14, 2013
Last updated: January 22, 2013
Last verified: January 2013



.../... the investigators aim at utilizing the capabilities of Magnetic Resonance Imaging (MRI) and Spectroscopy (MRS). Using techniques called Diffusion Imaging, resting-state functional MRI, and Proton Spectroscopy (1H MRS), the investigators propose to determine the differences in the connectivity and neurochemistry of the spinal cord and the brain .../...

Glial Cells Assist in the Repair of Injured Nerves

Glial Cells Assist in the Repair of Injured Nerves. Max-Planck-Gesellschaft. ScienceDaily, 28 Jan. 2013. Web. 29 Jan. 2013.

Jan. 28, 2013 — Unlike the brain and spinal cord, the peripheral nervous system has an astonishing capacity for regeneration following injury. Researchers at the Max Planck Institute of Experimental Medicine in Göttingen have discovered that, following nerve damage, peripheral glial cells produce the growth factor neuregulin1, which makes an important contribution to the regeneration of damaged nerves.

Original source (Journal reference): A role for Schwann cell-derived neuregulin-1 in remyelination. Stassart RM, Fledrich R, Velanac V, Brinkmann BG, Schwab MH, Meijer D, Sereda MW, Nave KA. Nature Neuroscience, 2012; 16 (1): 48 DOI: 10.1038/nn.3281

Eye movements in patients with neurodegenerative disorders

Eye movements in patients with neurodegenerative disorders. Review, Tim J. Anderson & Michael R. MacAskill, Nature Reviews Neurology, advance online publication, Published online 22 January 2013 | doi:10.1038/nrneurol.2012.273

Keywords: neural pathways, brain regions, eye movements, cerebrum, brainstem, cerebellum, neurodegeneration, neurodegenerative disorders, disease severity, objective evaluation, saccade performance.

Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich’s ataxia YG8R mouse model

Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich’s ataxia YG8R mouse model . Dr. Yuxi Shan, Dr. Robert A Schoenfeld, Genki Hayashi, Dr. Eleonora Napoli, Dr. Tasuku Akiyama, Dr. Mirela Iodi-Carstens, Dr. Earl E. Carstens, Dr. Mark A. Pook, and Dr. Gino Cortopassi. Antioxidants & Redox Signaling. -Not available-, ahead of print. doi:10.1089/ars.2012.4537.

"Frataxin expression was significantly correlated with Nrf2 expression"

Keywords: Oxidative stress, Dorsal Root Ganglion (DRG) neurons, transcripts encoding antioxidants, peroxiredoxins, glutaredoxins, glutathione-S-transferase, antioxidant transcription factor Nrf2, frataxin, thioredoxin reductase.

Mitochondria in cardiac hypertrophy and heart failure

Mitochondria in cardiac hypertrophy and heart failure. Mariana G. Rosca, Bernard Tandler, Charles L. Hoppel. Journal of Molecular and Cellular Cardiology, Volume 55, February 2013, Pages 31-41.

Keywords: Heart failure, Cardiac hypertrophy, Mitochondria, Oxidative phosphorylation

Transition metals and mitochondrial metabolism in the heart

Transition metals and mitochondrial metabolism in the heart. Amy K. Rines, Hossein Ardehali, Journal of Molecular and Cellular Cardiology, Volume 55, February 2013, Pages 50-57. http://dx.doi.org/10.1016/j.yjmcc.2012.05.014

Highlights: "FRDA and doxorubicin toxicities are highlighted as disorders of iron deregulation.", "the heart is one of the most mitochondrially-rich tissues in the body"