Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich’s ataxia

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich’s ataxia. Maria R. Stefanescu , Moritz Dohnalek , Stefan Maderwald , Markus Thürling , Martina Minnerop , Andreas Beck , Marc Schlamann , Joern Diedrichsen , Mark E. Ladd , Dagmar Timmann
Brain. 2015 Mar 28, DOI: http://dx.doi.org/10.1093/brain/awv064 First published online: 28 March 2015

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells. Ana M. Silva, Jill M. Brown, Veronica J. Buckle, Richard Wade-Martins and Michele M.P. Lufino; Hum. Mol. Genet. (2015) doi: 10.1093/hmg/ddv096 First published online: March 26, 2015

BioBlast Pharma Announces Positive Preclinical Proof-of-Concept Results of Its Novel Mitochondrial Protein Replacement Platform in Friedreich's Ataxia

BioBlast Pharma Announces Positive Preclinical Proof-of-Concept Results of Its Novel Mitochondrial Protein Replacement Platform in Friedreich's Ataxia. GlobeNewswire, March 26, 2015 Source: BioBlast Pharma.

In in-vitro studies performed in Friedreich's Ataxia patients' cells, BB-FA successfully penetrated the mitochondria and restored the damaged mitochondrial functions to close to normal levels
In two different mouse models, BB-FA rescued both brain and heart tissues, returning their activity to near normal function. BB-FA induced weight gain, prevented the development of heart disease (commonly the cause of death in Friedreich's Ataxia patients) and increased survival.

Catabasis Pharmaceuticals to Present at International Ataxia Research Conference

Catabasis Pharmaceuticals to Present at International Ataxia Research Conference. CAMBRIDGE, Mass.--(BUSINESS WIRE)--

Andrew Nichols, Ph.D., vice president, head of research at Catabasis, will present a poster titled “CAT-4001, a Novel Nrf2 Activator and NF-kB Inhibitor, for the Treatment of Friedreich’s Ataxia.” The poster will be presented on Friday, March 27, 2015, from 12:00pm to 2:00pm GMT.

Gene and cell therapy for neurogenetic disease: hope through research

Gene and cell therapy for neurogenetic disease: hope through research. INTERNATIONAL INNOVATION, Dr Marguerite Evans-Galea PhD, Murdoch Childrens Research Institute, Melbourne, Australia; Executive Member, Australasian Gene and Cell Therapy Society

AMELIORATION OF THE EFFECTS OF FRIEDRIECH'S ATAXIA .

AMELIORATION OF THE EFFECTS OF FRIEDRIECH'S ATAXIA. Applicants: WILSON, Robert, B., COTTICELLI, M., Grazia CRABBE, Andrew, M. Publication Date: 26.02.2015

The effects of Friedreich's Ataxia are ameliorated by administering to a patient known or suspected of having the disease with essentially free cis Δ9 fatty acid having from 12 to 24 carbon atoms and a single double bond in a cis configuration at the C9 carbon atom

Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes.

Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes. Thomas Eschenhagen, Christine Mummery and Bjorn C. Knollmann. Cardiovasc Res. 2015 April 1; 105(4): 424–438. doi: 10.1093/cvr/cvv017

FULL TEXT PDF Available in Europe PMC (Free)

Molecular Strategies for Targeting Antioxidants to Mitochondria: Therapeutic Implications

Molecular Strategies for Targeting Antioxidants to Mitochondria: Therapeutic Implications. Nadezda Apostolova and Victor M. Victor; Antioxid Redox Signal. 2015 March 10; 22(8): 686–729. doi: 10.1089/ars.2014.5952

FULL TEXT PDF Available in Europe PMC (Free)

Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity

Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity. Santarelli R., Cama E., Pegoraro E., Scimemi P.; Neurodegenerative Diseases, Vol. 0, No. 0, Year 2015 (Cover Date: Online First), DOI:10.1159/000375307

A longitudinal study of the Friedreich Ataxia Impact Scale

A longitudinal study of the Friedreich Ataxia Impact Scale; Geneieve Tai, Eppie M. Yiu, Louise A. Corben, Martin B. Delatycki, Journal of the Neurological Sciences, Available online 21 March 2015, ISSN 0022-510X, http://dx.doi.org/10.1016/j.jns.2015.03.024.

The promise of futility trials in neurological diseases

The promise of futility trials in neurological diseases. Marcus W. Koch, Lawrence Korngut, David G. Patry, Yahya Agha-Khani, Christopher White, Justyna R. Sarna, Michael Yeung, V. Wee Yong, Daniel Y. C. Heng, Gary Cutter, Luanne Metz; Nature Reviews Neurology (2015) doi:10.1038/nrneurol.2015.34

Basic research into neurological diseases continues to identify candidate therapies faster than they can be tested for their clinical utility, leading to a 'translational gap'.

Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich’s ataxia

Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich’s ataxia. Li Y, Polak U, Bhalla A, Rozwadowska N, Butler JS, Lynch D, Dent SY, Napierala M; Mol Ther. 2015 Mar 11. doi: 10.1038/mt.2015.41.

Movement disorders: Friedreich ataxia today-preparing for the final battle

Movement disorders: Friedreich ataxia today-preparing for the final battle. De Michele G, Filla A; Nature Reviews Neurology (2015) doi:10.1038/nrneurol.2015.33 Published online 10 March 2015

Diffusion Tensor Imaging and Tract-Based Spatial Statistics Analysis in Friedreich’s Ataxia Patients

Diffusion Tensor Imaging and Tract-Based Spatial Statistics Analysis in Friedreich’s Ataxia Patients. Simone Carreiro Vieira Karuta, MD., Salmo Raskin, MD, PhD, Arnolfo de Carvalho Neto, MD, PhD, Emerson Leandro Gasparetto, MD, PhD, Thomas Doringe, (Physicist), Helio Afonso Ghizoni Teive, MD, PhD; Parkinsonism & Related Disorders, Available online 11 March 2015 doi:10.1016/j.parkreldis.2015.02.021

Las ambulancias para el cerebro reciben el impulso del RecerCaixa

Las ambulancias para el cerebro reciben el impulso del RecerCaixa.Institute for Research in Biomedicine (IRB Barcelona), 11 Mar 2015

El proyecto “Gate2Brain, lanzaderas peptídicas para la terapia de reemplazo proteico en la ataxia de Friedreich”, dirigido por Ernest Giralt, jefe del Laboratorio de Péptidos y Proteínas del Instituto de Investigación Biomédica (IRB Barcelona) y catedrático de la Universidad de Barcelona, y Javier Díaz Nido, del Centro de Biología Molecular Severo Ochoa (CBMSO), ha sido galardonado por el programa RecerCaixa, organizado por la Obra Social “la Caixa” con la colaboración de la Associació Catalana d’Universitats Públiques (ACUP).

Este proyecto tiene por objetivo establecer una nueva opción terapéutica para la ataxia de Friedreich, basada en el reemplazo de la proteína frataxina que falta en los pacientes, pero que se podría aplicar a otras enfermedades neurodegenerativas.


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Ambulances for the brain supported by the RecerCaixa Programme

Ambulances for the brain supported by the RecerCaixa Programme. Institute for Research in Biomedicine (IRB Barcelona), 11 Mar 2015

The project “Gate2Brain, peptide shuttles for protein replacement therapy in Friedreich’s ataxia”, led by Ernest Giralt, head of the Peptides and Proteins Lab at the Institute for Research in Biomedicine (IRB Barcelona) and full professor of the University of Barcelona, and by Javier Díaz Nido, at the Centro de Biología Molecular Severo Ochoa (CBMSO), has been awarded funding from the RecerCaixa Programme—an initiative of the Obra Social “la Caixa” with the collaboration of the Associació Catalana d’Universitats Públiques (ACUP).

This project seeks to establish a new therapeutic approach to Friedreich’s ataxia based on the replacement of the frataxin protein that patients lack. However, this approach could be used for other neurodegenerative diseases.

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Les ambulàncies per al cervell reben l’impuls del RecerCaixa (CAT)

Les ambulàncies per al cervell reben l’impuls del RecerCaixa. Institute for Research in Biomedicine (IRB Barcelona), 11 Mar 2015

El projecte “Gate2Brain, llançadores peptídiques per a la teràpia de reemplaçament proteic en l’atàxia de Friedreich”, dirigit per Ernest Giralt, cap del Laboratori de Pèptids i Proteïnes de l’Institut de Recerca Biomèdica (IRB Barcelona) i catedràtic de la Universitat de Barcelona, i Javier Díaz Nido, del Centre de Biologia Molecular Severo Ochoa (CBMSO), ha estat guardonat pel programa RecerCaixa, organitzat per l’Obra Social “la Caixa” amb la col·laboració de l’Associació Catalana d’Universitats Públiques (ACUP).

Aquest projecte té per objectiu establir una nova opció terapèutica per a l’atàxia de Friedreich, basada en el reemplaçament de la proteïna frataxina que manca en els pacients, però que es podria aplicar a altres malalties neurodegeneratives.

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Experiences of Someone with a Neuromuscular Disease in Operating a PC (and Ways to Successfully Overcome Challenges)

Experiences of Someone with a Neuromuscular Disease in Operating a PC (and Ways to Successfully Overcome Challenges). ACM Transactions on Accessible Computing (TACCESS) Volume 6 Issue 2, March 2015 ISSN: 1936-7228 EISSN: 1936-7236 doi 10.1145/2700436

This article describes the experiences of the first author, who was diagnosed with the neuromuscular disease Friedreich's Ataxia more than 25 years ago

Sensorimotor skills in Fxn KO/Mck mutants deficient for frataxin in muscle

Sensorimotor skills in Fxn KO/Mck mutants deficient for frataxin in muscle Mohammed Filali, Robert Lalonde, Catherine Gérard, Zoé Coulombe, Jacques P. Tremblay, Brain Research, Available online 10 March 2015, ISSN 0006-8993, http://dx.doi.org/10.1016/j.brainres.2015.03.001.

Shortening trinucleotide repeats using highly specific endonucleases: a possible approach to gene therapy?

Shortening trinucleotide repeats using highly specific endonucleases: a possible approach to gene therapy?. Guy-Franck Richard; Trends in Genetics, Available online 2 March 2015, ISSN 0168-9525, http://dx.doi.org/10.1016/j.tig.2015.02.003.

Mechanism of action of 2-aminobenzamide HDAC inhibitors in reversing gene silencing in Friedreich’s ataxia

Mechanism of action of 2-aminobenzamide HDAC inhibitors in reversing gene silencing in Friedreich’s ataxia. Soragni E, Chou CJ, Rusche JR and Gottesfeld JM (2015). Front. Neurol. 6:44. doi: 10.3389/fneur.2015.00044

Friedreich's Ataxia (FRDA) is an extremely rare cause of Autosomal Recessive ataxia in Chinese Han population

Friedreich's Ataxia (FRDA) is an extremely rare cause of Autosomal Recessive ataxia in Chinese Han population.
Junsheng Zeng, Junling Wang, Sheng Zeng, Miao He, Xianfeng Zeng, Yao Zhou, Zhen Liu, Hong Jiang, Beisha Tang; Journal of the Neurological Sciences, Available online 6 March 2015, doi:10.1016/j.jns.2015.03.002

Psychosis Complicating Friedreich Ataxia

Psychosis Complicating Friedreich Ataxia. Christos Ganos MD1, Daniel Schöttle MD3, Christine Zühlke MD4 and Alexander Münchau MD5; Movement Disorders Clinical Practice, Volume 2, Issue 1, pages 84–85, March 2015 DOI: 10.1002/mdc3.12115

"Case of a 29-year-old patient with FA who developed psychotic symptoms shortly upon administration of intravenous (IV) amiodarone"

The Pathogenesis of Cardiomyopathy in Friedreich Ataxia

The Pathogenesis of Cardiomyopathy in Friedreich Ataxia. Koeppen AH, Ramirez RL, Becker AB, Bjork ST, Levi S, Paolo Santambrogio, Patrick J. Parsons, Pamela C. Kruger, Karl X. Yang, Paul J. Feustel, Joseph E. Mazurkiewicz (2015), PLoS ONE 10(3): e0116396. doi:10.1371/journal.pone.0116396

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The second coming of epigenetic drugs

The second coming of epigenetic drugs. Philip Hunter, EMBO reports (2015) 16, 276-279, DOI 10.15252/embr.201540121

New drugs have been slow to materialize, however, largely because epigenetic mechanisms and their role in gene expression are more complex than originally thought. Apart from modifying the chromatin structure, transcription can also be altered through RNA interference, which has emerged as another important epigenetic mechanism with great therapeutic potential.It operates by silencing genes in the cytoplasm after transcription, or by interfering directly with the transcriptional machinery in the nucleus.

Quantifiable evaluation of cerebellar signs in children.

Quantifiable evaluation of cerebellar signs in children. Antoine Filipovic Pierucci, MPH, Caterina Mariotti, MD, Marta Panzeri, MD, Paola Giunti, MD, PhD, Sylvia Boesch, MD, Jörg B. Schulz, MD, Massimo Pandolfo, MD, Alexandra Durr, MD, PhD and Sophie Tezenas du Montcel, MD, PhD On behalf of the EFACTS Study Group; Neurology. 2015 Feb 25. pii: 10.1212/WNL.0000000000001403. [Epub ahead of print]