Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia

Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia. Christian Clemm von Hohenberg, Michael F. Schocke, Marlene C. Wigand, Wolfgang Nachbauer, Charles RG Guttmann, Marek Kubicki, Martha E. Shenton, Sylvia Boesch, Karl Egger.
Neurological Sciences, May 2013. DOI 10.1007/s10072-013-1402-0

Keywords: Friedreich ataxia, Magnetic resonance imaging, Diffusion-tensor imaging, Tract-based spatial statistics, Cerebellar peduncle, Biomarker.

Heme Levels Are Increased in Human Failing Hearts

Heme Levels Are Increased in Human Failing Hearts. Arineh Khechaduri, MS; Marina Bayeva, PhD; Hsiang-Chun Chang, BA; Hossein Ardehali, MD, PhD.;
J Am Coll Cardiol. 2013;61(18):1884-1893. doi:10.1016/j.jacc.2013.02.012

Similarly, aggregation of iron inside the mitochondria has been observed in the hearts of Friedreich’s ataxia patients, who develop progressive and lethal cardiac dysfunction. Thus, maintenance of iron balance inside the heart appears to be critical for its function, but it remains unknown how iron regulation is altered in failing human hearts.

Triple Therapy with Darbepoetin Alfa, Idebenone, and Riboflavin in Friedreich’s Ataxia: an Open-Label Trial

Triple Therapy with Darbepoetin Alfa, Idebenone, and Riboflavin in Friedreich’s Ataxia: an Open-Label Trial. Javier Arpa, Irene Sanz-Gallego, Francisco J. Rodríguez-de-Rivera, Francisco J. Domínguez-Melcón, Daniel Prefasi, Javier Oliva-Navarro, Mar Moreno-Yangüela, Samuel I. Pascual-Pascual. The Cerebellum April 2013 DOI 10.1007/s12311-013-0482-y



Long-term statistically nonsignificant improvement of LVMI and stability of the echocardiographic parameters could be considered. Triple therapy may slow disease progression of FRDA.

Progress in gene therapy for neurological disorders

Progress in gene therapy for neurological disorders. Michele Simonato, Jean Bennett, Nicholas M. Boulis, Maria G. Castro, David J. Fink, William F. Goins, Steven J. Gray, Pedro R. Lowenstein, Luk H. Vandenberghe, Thomas J. Wilson, John H. Wolfe & Joseph C. Glorioso; Nature Reviews Neurology , | doi:10.1038/nrneurol.2013.56

Standard medical and surgical practice has not proved effective in curing or treating these diseases, and appropriate pharmaceuticals do not exist or are insufficient to slow disease progression. Gene therapy is emerging as a powerful approach with potential to treat and even cure some of the most common diseases of the nervous system.

Erythropoietin receptor (EpoR) agonism to treat a wide range of diseases.

Erythropoietin receptor (EpoR) agonism to treat a wide range of diseases. Sanchis-Gomar F, Perez-Quilis C, Lippi G.; Mol Med. 2013 Apr 11. doi: 10.2119/molmed.2013.00025.

Keywords: Erythropoietin receptor (EpoR), pleitropic actions, heart and cardiovascular diseases, neurodegenerative disorders (Parkinson and Alzheimer), spinal cord injury, stroke, diabetic retinopathy, rare diseases (Friedreich ataxia) side effects, non-hematopoietic EpoR agonists drugs (asialoEpo, Cepo and ARA 290)

Hereditary Ataxia and Spastic Paraplegia in Portugal: A Population-Based Prevalence Study.

Hereditary Ataxia and Spastic Paraplegia in Portugal: A Population-Based Prevalence Study. Coutinho P, Ruano L, Loureiro JL, Cruz VT, Barros J, Tuna A, Barbot C, Guimarães J, Alonso I, Silveira I, Sequeiros J, Marques Neves J, Serrano P, Silva MC
JAMA Neurology [2013:1-10]

Friedreich ataxia (prevalence, 1.0 per 100 000 population)

Scientists Find Way to Turn Stem Cells Into Brain Cells

Scientists Find Way to Turn Stem Cells Into Brain Cells. Jason Koebler, U.S. News & World. April 23, 2013.

New scholarship research into Friedreich Ataxia, heart and eye dysfunction

CERA student receives prestigious Gustav Nossal Scholarship for his research into Friedreich Ataxia .
CERA (Centre for Eye Research Australia).09 April, 2013

Duncan is a PhD student in CERA's Neuroregeneration Research Unit, he uses stem cells generated in the laboratory from FRDA patients' own skin, to grow certain types of cells found in the heart and eye. These cells will be used to better understand the pathology of FRDA, to conduct basic research on the disease and to test new drugs, prior to conducting clinical trials.

Gene Therapy for Rare Diseases: Summary of a National Institutes of Health Workshop, September 13, 2012

Gene Therapy for Rare Diseases: Summary of a National Institutes of Health Workshop, September 13, 2012 . Marina O'Reilly, Donald B. Kohn, Jeffrey Bartlett, Janet Benson, Philip J. Brooks, Barry J. Byrne, Carlos Camozzi, Kenneth Cornetta, Ronald G. Crystal, Yuman Fong, Linda Gargiulo, Rashmi Gopal-Srivastava, Katherine A. High, Samuel G. Jacobson, Robert C. Jambou, Maureen Montgomery, Eugene Rosenthal, R. Jude Samulski, Sonia I. Skarlatos, Brian Sorrentino, James M. Wilson, Yun Xie, and Jacqueline Corrigan-Curay. Human Gene Therapy. April 2013, 24(4): 355-362. doi:10.1089/hum.2013.064.

Gene therapy has shown clinical efficacy for several rare diseases, using different approaches and vectors.

Of flies and men: insights on organismal metabolism from fruit flies

Of flies and men: insights on organismal metabolism from fruit flies. Akhila Rajan and Norbert Perrimon; BMC Biology 2013, 11:38 doi:10.1186/1741-7007-11-38

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Altered lipid metabolism in human neurodegenerative disease models

Given the energy needs of neuronal cells, it is not surprising that deficits in energy metabolism manifest themselves most prominently in neuronal cell types. Genes that play a role in lipid homeostasis and mitochondrial function have been linked to adult onset neurodegeneration and have been extensively reviewed elsewhere [4,51,52]. Here we discuss insights obtained from a fly model of Friedreich's ataxia (FRDA) [53]. FRDA is the most common form of an autosomal recessive neurodegenerative disease affecting the central and peripheral nervous systems. It is caused by reduced expression of the mitochondrial protein frataxin, whose deficiency affects citric acid cycle function. Diabetes is a typical symptom of FRDA patients, and electron microscopic analysis of the neurons and cardiac muscles in mouse models shows an increase in lipid droplets [54], suggesting that there may be changes in lipid metabolism. To pursue further the role played by abnormal lipid metabolism in FRDA pathogenesis, Drosophila frataxin was removed from glial cells (neuronal support cells) by RNA interference (RNAi). This resulted in increased lipid droplet accumulation in glial cells and increased sensitivity to oxidative insults, neurodegeneration and impairment in locomotor activity. Interestingly, overexpression of Glial Lazarillo (GLaz) - the Drosophila homolog of human apolipoprotein D, a carrier protein of lipids - confers a protective effect on the Frataxin-RNAi flies. These studies suggest for the first time a specific requirement for frataxin in glial cells, and open the possibility that the control of lipid metabolism by apolipoproteins could represent a new strategy for the treatment of FRDA patients.