Friedreich-Like Ataxia as an Initial Manifestation of Mitochondrial DNA 8344A>G Mutation.

J Child Neurol. 2012 Jan 12.

Chevallier JA, Koenig MK.
Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Health Science Center, Houston, TX, USA.

Keywords: subacute onset of ataxia, acute-onset cardiac and pulmonary failure, Magnetic resonance imaging (MRI),nerve conduction velocities, electromyography, sensorimotor axonal neuropathy, Friedreich ataxia, molecular testing of the frataxin gene, mutation at 8344A>G in transfer RNA lysine.

Iron Intake In Teen Years Can Impact Brain In Later Life

University of California - Los Angeles. (2012, January 13). "Iron Intake In Teen Years Can Impact Brain In Later Life." Medical News Today

"The findings may aid future studies of how iron transport affects brain function, development and the risk of neurodegeneration."

Reference:
Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene. Published online before print January 9, 2012, doi: 10.1073/pnas.1105543109 PNAS January 9, 2012

DEVELOPPEMENT D’UN SCORE DE STABILITE CHEZ LES PERSONNES PRESENTANT DES PATHOLOGIES D’ORIGINE NEUROLOGIQUE ENTRAINANT DES TROUBLES DE LA MARCHE ET/OU DE L’EQUILIBRE

THESE, Pour l’obtention du grade de DOCTEUR DE L’UNIVERSITE PARIS-SUD 11
Arnaud GOUELLE

Soutenue le 13 décembre 2011


CHAPITRE VI - Apport du GVI dans l’évaluation de l’ataxie de Friedreich 155
VI.1 Préambule 155
VI.2 Introduction 157
VI.3 Méthode 158
VI.4 Résultats 160
VI.5 Discussion 163

Movement disorders: Genetic and epigenetic factors determine the clinical course in Friedreich ataxia

Nat Rev Neurol. 2012 Jan 10., doi:10.1038/nrneurol.2011.215

Katie Kingwell

Keywords: Friedreich ataxia (FRDA, GAA repeat expansion, frataxin gene (FXN), DNA methylation.

China stops unapproved stem cell treatments

(Reuters) - BEIJING | Tue Jan 10, 2012

China has ordered a halt to all unapproved stem cell treatments and clinical trials, state media reported on Tuesday, as Beijing seeks to rein in the largely untested stem cell therapies now on offer across the country.

"Health providers could no longer charge money for experimental stem cell applications"

Solving the Structure of a Protein That Shows Promise as a DNA-Targeting Molecule for Gene Correction, Therapy

ScienceDaily, 5 Jan. 2012. Web. 9 Jan. 2012.
Fred Hutchinson Cancer Research Center. "Solving the structure of a protein that shows promise as a DNA-targeting molecule for gene correction, therapy."

ScienceDaily (Jan. 5, 2012) — Researchers at Fred Hutchinson Cancer Research Center have solved the three-dimensional structure of a newly discovered type of gene-targeting protein that has shown to be useful as a DNA-targeting molecule for gene correction, gene therapy and gene modification.

A. N.-S. Mak, P. Bradley, R. A. Cernadas, A. J. Bogdanove, B. L. Stoddard. The Crystal Structure of TAL Effector PthXo1 Bound to Its DNA Target. Science, 2012; DOI: 10.1126/science.1216211

Chromatin changes in the development and pathology of the Fragile X-associated Disorders and Friedreich ataxia

Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
In Press, Accepted Manuscript, doi:10.1016/j.bbagrm.2011.12.009

Daman Kumari, Rachel Lokanga, Dmitry Yudkin, Xiao-Nan Zhao, Karen Usdin
Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda

Keywords: The fragile X-associated disorders (FXDs), Friedeich ataxia (FRDA), expansion of a trinucleotide repeat, transcribed but not translated, FXN transcript.

Conference about the research project on Friedreich Ataxia given by Dr. Jacques P.Tremblay

"Development of a potential therapy for Friedreich ataxia"
This research project is directed by Dr. Jacques P. Tremblay, Ph.D., professor in the Department of Molecular Medicine of Laval University in Quebec and main investigator at the Research Centre of Quebec City (CHUL).

New Clinical Trial in Friedreich's Ataxia in Italy

FARA, January 5, 2012 -- The Italian Health Ministry and the Ethics Committee of the San Luigi Hospital in Torino, Italy, have given investigators at the hospital approval to initiate a Phase I clinical trial of a new drug designed specifically to treat Friedreich's ataxia. After additional study site preparations, this Phase I trial will test the Repligen drug, known as RG2833, in patients with Friedreich’s ataxia.

Erythropoietin in friedreich ataxia: No effect on frataxin in a randomized controlled trial

Movement Disorder, Article first published online: 4 JAN 2012 | DOI: 10.1002/mds.24066
Caterina Mariotti, Roberto Fancellu, Serena Caldarazzo, Lorenzo Nanetti, Daniela Di Bella, Massimo Plumari, Giuseppe Lauria, Maria D. Cappellini, Lorena Duca, Alessandra Solari and Franco Taroni

Results: Erythropoietin treatment was safe and well tolerated, but did not result in any significant hematological, clinical, or biochemical effects in Friedreich ataxia patients.