EFACTS’ (European Friedreich’s Ataxia Consortium for Translational Studies) Annual Newsletter 2013.

EFACTS’ (European Friedreich’s Ataxia Consortium for Translational Studies) Annual Newsletter 2013.

This third issue of EFACTS NEWS presents an update on the status of the EFACTS patient registry as baseline assessments are completed for a core sample of patients. Progress in the various research areas has been made over the past year. Patients are particularly interested in treatment options and may be glad to read that this newsletter contains information on progress in a clinical trial with a potential therapeutic candidate. There have been a number of publications on findings derived from EFACTS projects, which are also presented in this newsletter.

Cognitive Deficits In Friedreich Ataxia Correlate with Micro-structural Changes in Dentatorubral Tract

Cognitive Deficits In Friedreich Ataxia Correlate with Micro-structural Changes in Dentatorubral Tract. Akhlaghi H, Yu J, Corben L, Georgiou-Karistianis N, Bradshaw JL, Storey E, Delatycki MB, Egan GF; Cerebellum (London, England) : 2013 Oct 2 pg. DOI 10.1007/s12311-013-0525-4

Keywords: Friedreich's ataxia, Dentato-rubral tract, Dentato-thalamic tract, Dentate nucleus, Diffusion MRI

Friedreich's Ataxia, Frataxin, PIP5K1B: Echo of a Distant Fracas

Friedreich's Ataxia, Frataxin, PIP5K1B: Echo of a Distant Fracas. Aurélien Bayot and Pierre Rustin, Oxidative Medicine and Cellular Longevity, vol. 2013, Article ID 725635, 7 pages, 2013. doi:10.1155/2013/725635

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Friedreich's Ataxia Active Research Grants funded by MDA (Years 2013,2014,2015,2016)

Friedreich's Ataxia Active Research Grants funded by MDA (Years 2013,2014,2015,2016)

Marek Napierala Ph.D., Correction of the Friedreich’s ataxia gene defect using zinc finger nucleases (2014-2016).

Giovanni Coppola MD, Peripheral Biomarkers in Friedreich's Ataxia (2013-2014).

Ronald Mark Payne M.D., Mechanism of Heart Failure in Friedreich Ataxia (2013-2015).

Jeffrey D. Milbrandt MD, PhD, Manipulating Schwann cell metabolism to treat peripheral neuropathy (2012-2015).

David Lynch MD, PhD, Insulin resistance in Friedreich ataxia (2012-2013)

Joseph Sarsero Ph.D., Development of an improved GAA repeat expansion mouse model of Friedreich ataxia (2012-2014)

Des Richardson Ph.D., D.Sc., Development of Iron Complexes for the Treatment of Friedreich’s Ataxia (2012-2014)

Source: MDA Active Research Grants, CALENDAR YEAR(s): 2013,2014,2015,2016

Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia)

Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia) Mohammad Hossein Salehi, Behnam Kamalidehghan, Massoud Houshmand, Omid Aryani, Majid Sadeghizadeh, Mir Majid Mossalaeie. Molecular Biology Reports, September 2013, DOI 10.1007/s11033-013-2767-0

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Epigenetics and ncRNAs in Brain Function and Disease: Mechanisms and Prospects for Therapy

Epigenetics and ncRNAs in Brain Function and Disease: Mechanisms and Prospects for Therapy. Miguel A. Varela, Thomas C. Roberts, Matthew J. A. Wood;
Neurotherapeutics, September 2013

Keywords: non-coding RNAs (ncRNAs), epigenetic mechanisms, gene expression, microRNAs (miRNAs), MECP2, EZH2, cancer, neurological diseases.

Management of the Rigid Cavus Foot in Children and Adolescents

Management of the Rigid Cavus Foot in Children and Adolescents . Dennis S. Weiner, Kerwyn Jones, David Jonah, Martin S. Dicintio; Foot and Ankle Clinics, Available online 26 September 2013. http://dx.doi.org/10.1016/j.fcl.2013.08.007

Keywords: Rigidity; Cavus; Salvage; Midtarsal; Osteotomy

Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism

Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism. Goula, Agathi-Vasiliki; Merienne, Karine. Genes 2013, 4, 375-387.

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Mitochondrial DNA variations and evidence of haplogroups in Indian Friedreich's ataxia (FRDA) patients

Mitochondrial DNA variations and evidence of haplogroups in Indian Friedreich's ataxia (FRDA) patients. I. Mudila, F. Mohammed, A. Srivastava; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Pages e708-e709. http://dx.doi.org/10.1016/j.jns.2013.07.2446

Variations at positions 16 519, 4883 and 5178 suggest that these variations may act as modifier for the disease.

Voxel-based morphometry in Friedreich's ataxia: A prospective study

Voxel-based morphometry in Friedreich's ataxia: A prospective study. C. Bonilha da Silva, C.L. Yasuda, A. D'Abreu, I. Lopes-Cendes, F. Cendes, M.C. França Jr.; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Pages e659-e660. http://dx.doi.org/10.1016/j.jns.2013.07.2285

VBM analyses showed that FRDA patients have progressive GM and WM loss in two years