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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A novel GAA repeat expansion-based mouse model of Friedreich ataxia.

A novel GAA repeat expansion-based mouse model of Friedreich ataxia. Anjomani Virmouni S, Ezzatizadeh V, Sandi C, Sandi M, Al-Mahdawi S, Chutake Y, Pook MA. Dis Model Mech. 2015 Feb 13. pii: dmm.018952. [Epub ahead of print] doi: 10.1242/dmm.018952

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Navigating through orphan medicinal product regulations in EU and US – Similarities and differences

Navigating through orphan medicinal product regulations in EU and US – Similarities and differences. Jyoti Tiwari, Regulatory Toxicology and Pharmacology, Volume 71, Issue 1, February 2015, Pages 63-67, ISSN 0273-2300, http://dx.doi.org/10.1016/j.yrtph.2014.11.006.

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Ferredoxin, in conjunction with NADPH and Ferredoxin-NADP reductase, transfers electrons to the complex IscS/IscU to promote iron-sulfur cluster assembly

Ferredoxin, in conjunction with NADPH and Ferredoxin-NADP reductase, transfers electrons to the complex IscS/IscU to promote iron-sulfur cluster assembly. Robert Yan, Salvatore Adinolfi, Annalisa Pastore, Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, Available online 14 February 2015, ISSN 1570-9639, http://dx.doi.org/10.1016/j.bbapap.2015.02.002.

Horizon Pharma plc Submits Investigational New Drug Application for ACTIMMUNE® in the Treatment of Friedreich's Ataxia

Horizon Pharma plc Submits Investigational New Drug Application for ACTIMMUNE® in the Treatment of Friedreich's Ataxia
. Marketwired, February 13, 2015

SOURCE: Horizon Pharma plc

Phase 3 Study Expected to Begin in Q2 2015

PIPs in neurological diseases

PIPs in neurological diseases. M.G. Waugh, Biochim. Biophys. Acta (2015), http://dx.doi.org/10.1016/j.bbalip.2015.02.002

There has been an interesting development recently concerning the possible involvement of PIP5K1B in Friedreich's ataxia.

Thérapie génique : 3 millions d’euros pour AAVLife

Thérapie génique : 3 millions d’euros pour AAVLife. Bpifrance 12 février 2015


Gene therapy for FA is blooming, yesterday knew the good news of the major strategic collaboration between Sanofi-Genzyme and Voyager Therapeutics, today it has known the news of a new economic aportacion to AAVLIFE project, which develops a gene therapy with AAV vectors for FA, targeted to the heart


Bpifrance investit, via le Fonds Biothérapies innovantes et Maladies rares, 3 millions d’euros dans la société de thérapie génique AAVLife. Une opération va lui permettre de faire progresser la thérapie génique pour le traitement des cardiomyopathies liées à l’ataxie de Friedreich.

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AAVLife is a gene therapy company focused on developing treatments for rare diseases with great unmet medical need.

AAVLife Raises $12 Million in Series A Financing to Advance Gene Therapy for Friedreich’s Ataxia