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]

Auditory neuropathy

Auditory neuropathy. Arnold Starr, Gary Rance, Handbook of Clinical Neurology, Elsevier, 2015, Volume 129, Pages 495-508, ISSN 0072-9752, ISBN 9780444626301, http://dx.doi.org/10.1016/B978-0-444-62630-1.00028-7.

Septal myectomy for hypertrophic obstructive cardiomyopathy in Friedreich's ataxia.

Septal myectomy for hypertrophic obstructive cardiomyopathy in Friedreich's ataxia. Anderson HN, Burkhart HM, Johnson JN; Cardiol Young. 2015 Feb 17:1-4. [Epub ahead of print] 10.1017/S104795111500013X

Keywords: Friedreich’s ataxia, hypertrophic cardiomyopathy, septal myectomy

This suggests that septal myectomy may be a viable option to relieve symptoms and interrupt progression of heart disease in appropriately selected Friedreich’s ataxia patients.

Very late-onset friedreich ataxia with laryngeal dystonia.

Very late-onset friedreich ataxia with laryngeal dystonia. Rota S. · Marchina E., Todeschini A., Nanetti L., Rinaldi F., Vanotti A., Mariotti C., Padovani A., Filosto MM, Case Rep Neurol 2014;6:287-290 (DOI:10.1159/000370062)

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