Probing disorders of the nervous system using reprogramming approaches

Probing disorders of the nervous system using reprogramming approaches. Justin K Ichida, Evangelos Kiskinis, The EMBO Journal (2015) embj.201591267 DOI 10.15252/embj.201591267

Perhaps the seemingly biggest advantage of this approach—the ability to study disease in the genetic background of the patient—has created the biggest challenge, as genetic background contributes to high variability in the properties of the patient‐derived cells. This variability is a reality that neurologists have been facing for years, as often, two patients diagnosed with the same condition might present with very different clinical profiles. The technology of cellular reprogramming has brought this reality of clinical heterogeneity seen in patients from the bedside to the lab bench.

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Cardiomyopathy in a dish: Using human inducible pluripotent stem cells to model inherited cardiomyopathies

Cardiomyopathy in a dish: Using human inducible pluripotent stem cells to model inherited cardiomyopathies. Forum Kamdar, Andre Klaassen Kamdar, Naoko Koyano-Nakagawa, Mary G. Garry, Daniel J. Garry, Journal of Cardiac Failure, Available online 28 April 2015, ISSN 1071-9164, http://dx.doi.org/10.1016/j.cardfail.2015.04.010.

Novel aberrant genetic and epigenetic events in Friedreich´s ataxia

Novel aberrant genetic and epigenetic events in Friedreich´s ataxia. Mari Paz Quesada, Jonathan Jones, F.J. Rodríguez-Lozano, Jose M. Moraleda, Salvador Martinez, Experimental Cell Research, Available online 28 April 2015, ISSN 0014-4827, http://dx.doi.org/10.1016/j.yexcr.2015.04.013.

Application de la méthodologie bayésienne a un essai clinique de petit effectif. Exemple de l’essai ACTFRIE : étude de l’effet de la pioglitazone dans l’ataxie de Friedreich

Application de la méthodologie bayésienne a un essai clinique de petit effectif. Exemple de l’essai ACTFRIE : étude de l’effet de la pioglitazone dans l’ataxie de Friedreich. B. Andriss, I. Husson, S. Guilmin Crepon, E. Jacqz-Aigrain, S. Zohar, C. Alberti; Revue d'Épidémiologie et de Santé Publique, Volume 63, Supplement 2, May 2015, Page S63, ISSN 0398-7620, http://dx.doi.org/10.1016/j.respe.2015.03.058.
(http://www.sciencedirect.com/science/article/pii/S0398762015002047)

Study of beta cells and neurons indicate incretin analogs as potential therapeutics for Friedreich’s ataxia

Study of beta cells and neurons indicate incretin analogs as potential therapeutics for Friedreich’s ataxia. Massimo Pandolfo, Mariana Igoillo-Esteve, Amélie Hu, Ewa Gurgul-Convey, Laila Romagueira Bichara Dos Santos, Jonas Jean-Christophe, Decio Eizirik, and Miriam Cnop; Neurology April 6, 2015 84:14 Supplement S32.005; 1526-632X

Magnetic Resonance is more sensitive than Echocardiography to detect Cardiomyopathy in Friedreich’s Ataxia.

Magnetic Resonance is more sensitive than Echocardiography to detect Cardiomyopathy in Friedreich’s Ataxia. Alberto Martinez, Ingrid Faber, Thiago Rezende, Cynthia Bonilha Da Silva, Thiago Venâncio, Anelyssa D'Abreu, Iscia Lopes-Cendes, Otávio Coelho-Filho, and Marcondes Franca, Jr.; Neurology April 6, 2015 84:14 Supplement P2.121; 1526-632X

Diagnosis of Friedreich’s Ataxia in Late-Onset Progressive Cerebellar Ataxia

Diagnosis of Friedreich’s Ataxia in Late-Onset Progressive Cerebellar Ataxia. Roisin Lonergan, Damien Ferguson * Joint first author with RL, Susan Byrne, David Bradley, Yvonne Langan, and Janice Redmond; Neurology April 6, 2015 84:14 Supplement P2.119; 1526-632X

Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients

Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients. Agessandro Abrahao, Jose Luiz Pedroso, Patricia de Carvalho Aguiar, and Orlando Barsottini; Neurology April 6, 2015 84:14 Supplement P2.122; 1526-632X

Correlation of GAITRite Walkway System and Biodex Balance System Measures to the FARS Score in Friedreich's Ataxia Patients: A Validation Study

Correlation of GAITRite Walkway System and Biodex Balance System Measures to the FARS Score in Friedreich's Ataxia Patients: A Validation Study. Theresa Zesiewicz, Seok Kim, Clifton Gooch, Jennifer Farmer, Yangxin Huang, Jason Salemi, Israt Jahan, Kelly Sullivan, Lynn Wecker, and Jeannie Stephenson; Neurology April 6, 2015 84:14 Supplement P2.123; 1526-632X

Longitudinal Study of Gait Dysfunction in Friedreich's Ataxia Using the GAITRite Walkway System

Longitudinal Study of Gait Dysfunction in Friedreich's Ataxia Using the GAITRite Walkway System. Theresa Zesiewicz, Clifton Gooch, Seok Kim, Jennifer Farmer, Israt Jahan, Yangxin Huang, Jason Salemi, Kelly Sullivan, and Jeannie Stephenson; Neurology April 6, 2015 vol. 84 no. 14 Supplement P2.120

Progressive Pyramidal And Callosal Damage In Friedreich’s Ataxia

Progressive Pyramidal And Callosal Damage In Friedreich’s Ataxia (P2.124). Thiago Rezende, Cynthia Silva, Alberto Martinez, Anelyssa D'Abreu, Iscia Lopes-Cendes, Fernando Cendes and Marcondes Franca, Jr.. Neurology April 6, 2015 vol. 84 no. 14 Supplement P2.124

Open-label Pilot Study of Methylprednisolone for the Treatment of Patients With Friedreich Ataxia (FRDA)

Open-label Pilot Study of Methylprednisolone for the Treatment of Patients With Friedreich Ataxia (FRDA). Sponsor: Children's Hospital of Philadelphia, Collaborator: Friedreich's Ataxia Research Alliance. First received: April 16, 2015

This study will explore whether methylprednisolone treatment is safe, well-tolerated, and beneficial in patients that are diagnosed with Friedreich Ataxia (FRDA). The study will also explore if methylprednisolone has any effects on biomarkers associated with FRDA. All subjects in the study will receive the same steroid treatment.
This study will take place at the Children's Hospital of Philadelphia as an outpatient trial in 5 children who are at least 5 years and less than 10 years of age, and in 5 adults ages 45 years and older, with genetically confirmed FRDA.

German regulator puts UniQure gene therapy appraisal on hold

German regulator puts UniQure gene therapy appraisal on hold. REUTERS. FRANKFURT, April 17

(Reuters) - A German regulator for new drugs has suspended the assessment of the Western world's first gene therapy, UniQure's Glybera, after an adviser to the European drugs watchdog voiced concern over the treatment. (Read more)

Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich’s Ataxia: an observational study

Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich’s Ataxia: an observational study. Marco Germanotta, Gessica Vasco, Maurizio Petrarca, Stefano Rossi, Sacha Carniel, Enrico Bertini, Paolo Cappa and Enrico Castelli; Journal of NeuroEngineering and Rehabilitation 2015, 12:41 doi:10.1186/s12984-015-0032-6

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First Presentation of Diabetes as Diabetic Ketoacidosis in a Case of Friedreich’s Ataxia

First Presentation of Diabetes as Diabetic Ketoacidosis in a Case of Friedreich’s Ataxia. Partha Pratim Chakraborty, Sayantan Ray, Rana Bhattacharjee, Sujoy Ghosh, Pradip Mukhopadhyay, Satinath Mukhopadhyay and Subhankar Chowdhury; Clinical Diabetes April 2015 vol. 33 no. 2 84-86, doi: 10.2337/diaclin.33.2.84

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Measuring Disease Progression in Giant Axonal Neuropathy: Implications for Clinical Trial Design

Measuring Disease Progression in Giant Axonal Neuropathy: Implications for Clinical Trial Design ; Lisa A. Roth, MD, MS,
Jonathan D. Marra, MA, Nicole H. LaMarca, DNP, MSN, CPNCJ; Child Neurol May 2015 30: 741-748 doi: 10.1177/0883073814542946

As part of a natural history study of giant axonal neuropathy, we hypothesized that the Friedreich Ataxia Rating Scale and the Gross Motor Function Measure would show a significant change over 6 months ....

Positive Preclinical Proof-of-Concept Results of BB-FA in Mice Model of Friedreich’s Ataxia

Positive Preclinical Proof-of-Concept Results of BB-FA in Mice Model of Friedreich’s Ataxia. BioBlast Announced Preclinical Data and Pipeline Updates. April 14, 2015

BioBlast (NasdaqGM: ORPN) announced positive in vitro and in vivo results from a therapy for Friedreich’s ataxia based on the mitochondria-targeting platform, providing support for further clinical development.

Emerging functional cross-talk between the Keap1-Nrf2 system and mitochondria

Emerging functional cross-talk between the Keap1-Nrf2 system and mitochondria. Ken Itoh,, Peng Ye, Tomoh Matsumiya, Kunikazu Tanji, and Taku Ozaki; J Clin Biochem Nutr. 2015 March; 56(2): 91–97. doi: 10.3164/jcbn.14-134

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DNA Topological and Epigenetic Regulation in Neurodevelopment and Disorders

DNA TOPOLOGICAL AND EPIGENETIC REGULATION IN NEURODEVELOPMENT AND DISORDERS . NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE, Project Number: 1K99NS091508-01, Project Leader: TEE, WEE WE, NEW YORK UNIVERSITY SCHOOL OF MEDICINE

PUBLIC HEALTH RELEVANCE: The goal of this project is to gain a mechanistic perspective on the roles of DNA topology and epigenetic regulation in neurodevelopment, and their implications in human neuropsychiatric disorders such as autism, and neurodegenerative diseases such as Freidreich's ataxia.

Differential Diagnosis of Sporadic Adult-Onset Ataxia: The Role of REM Sleep Behavior Disorder

Differential Diagnosis of Sporadic Adult-Onset Ataxia: The Role of REM Sleep Behavior Disorder. Hélio A.G. Teive, Walter O. Arruda, Adriana Moro, Mariana Moscovich, Renato P. Munhoz, Parkinsonism & Related Disorders, Available online 11 April 2015, ISSN 1353-8020, http://dx.doi.org/10.1016/j.parkreldis.2015.04.001.

Mitochondrial dynamism and heart disease: changing shape and shaping change

Mitochondrial dynamism and heart disease: changing shape and shaping change. Gerald W Dorn; EMBO Molecular Medicine
Early View, Article first published online: 10 APR 2015 DOI: 10.15252/emmm.201404575

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Horizon Pharma plc Receives FDA Fast Track Designation for ACTIMMUNE(R) in the Treatment of Friedreich's Ataxia

Horizon Pharma plc Receives FDA Fast Track Designation for ACTIMMUNE(R) in the Treatment of Friedreich's Ataxia . DUBLIN, IRELAND, Apr 10, 2015 (Marketwired via COMTEX)

The Company submitted the Investigational New Drug (IND) application for ACTIMMUNE in the treatment of FA in February 2015 and announced plans to begin a Phase 3 study in the second quarter in collaboration with the Friedreich's Ataxia Research Alliance (FARA) and a sub-set of FARA's Collaborative Clinical Research Network (CCRN) study centers in FA.

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. Eppie M. Yiu, Geneieve Tai, Roger E. Peverill, Katherine J. Lee, Kevin D. Croft, Trevor A. Mori, Barbara Scheiber-Mojdehkar, Brigitte Sturm, Monika Praschberger, Adam P. Vogel, Gary Rance, Sarah E. M. Stephenson, Joseph P. Sarsero, Creina Stockley, Chung-Yung J. Lee, Andrew Churchyard, Marguerite V. Evans-Galea, Monique M. Ryan, Paul J. Lockhart, Louise A. Corben, Martin B. Delatycki; Journal of Neurology, April 2015 DOI 10.1007/s00415-015-7719-2

Effect of mental fatigue on speed-accuracy trade-off

Effect of mental fatigue on speed-accuracy trade-off. Vianney Rozand, Florent Lebon, Charalambos Papaxanthis, Romuald Lepers, Neuroscience, Available online 4 April 2015, ISSN 0306-4522, http://dx.doi.org/10.1016/j.neuroscience.2015.03.066.

Previous studies suggested that the speed-accuracy trade-off is altered in specific cases, e.g., the patients with Friedreich ataxia that alter motor coordination but not cognitive functions (Corben et al., 2011) or the elderly (Sleimen-Malkoun et al., 2013). In these populations, movement duration was slowed compared to healthy young subjects, especially for higher difficulties.

Autophagy in neurodegenerative diseases: from pathogenic dysfunction to therapeutic modulation

Autophagy in neurodegenerative diseases: from pathogenic dysfunction to therapeutic modulation. Marta Martinez-Vicente, Seminars in Cell & Developmental Biology, Available online 2 April 2015, ISSN 1084-9521, http://dx.doi.org/10.1016/j.semcdb.2015.03.005.

Autophagic dysfunction has been described in many neurodegenerative diseases, ranging from Alzheimer’s disease (AD), to Parkinson’s disease (PD), Huntington’s disease (HD), amyotrophic lateral sclerosis (ALS), Friedreich's ataxia and others. Failure of the autophagic process may thus be one of the factors contributing to neuronal cell death

Risk of Heart Failure and Death Among Patients With Friedreich Ataxia Admitted for Non-Cardiac Etiologies

Risk of Heart Failure and Death Among Patients With Friedreich Ataxia Admitted for Non-Cardiac Etiologies. K.Y. Lin, D. Lynch, M.J. O’Connor, J. Rossano, The Journal of Heart and Lung Transplantation, Volume 34, Issue 4, Supplement, April 2015, Page S186, ISSN 1053-2498, http://dx.doi.org/10.1016/j.healun.2015.01.508.

Metabolic approaches to Friedreich ataxia

Project Information: Metabolic approaches to Friedreich ataxia. LYNCH, DAVID ROBINSON, Recieved:02-Apr-2015

Project Information

PUBLIC HEALTH RELEVANCE: The present proposal will investigate the metabolic causes of the disease Friedreich ataxia, concentrating on fatty acid metabolism. If successful, this will lea to new treatments for the disorder and new ways to follow the disease.

Mitoferrin modulates iron toxicity in a drosophila model of Friedreich´s ataxia

Mitoferrin modulates iron toxicity in a drosophila model of Friedreich´s ataxia. Juan A. Navarro, Jose A. Botella, Christoph Metzendorf, Maria I. Lind, Stephan Schneuwly, Free Radical Biology and Medicine, Available online 2 April 2015, ISSN 0891-5849, http://dx.doi.org/10.1016/j.freeradbiomed.2015.03.014.

Friedreich's ataxia – a case of aberrant transcription termination?

Friedreich's ataxia – a case of aberrant transcription termination?. Jill Sergesketter Butler & Marek Napierala; Transcription. 2015 Apr 1:0. DOI:10.1080/21541264.2015.1026538