Role of Frataxin and Mitochondrial Dysfunction in Friedreich's Ataxia

Giovanni Manfredi, MD, PhD, Professor of Neurology and Neuroscience, Weill Medical College of Cornell University

Occurrence of adverse events in chronic intrathecal baclofen infusion: a one-year follow-up study of 158 adults

Occurrence of adverse events in chronic intrathecal baclofen infusion: a one-year follow-up study of 158 adults. Léo Borrini, Djamel Bensmail, Jean-Baptiste Thiebaut, Caroline Hugeron, Célia Rech, Claire Jourdan; Archives of Physical Medicine and Rehabilitation, Available online 6 January 2014. http://dx.doi.org/10.1016/j.apmr.2013.12.019

The objective is to assess the frequency and types of adverse events (AEs) related to intrathecal baclofen (ITB) therapy in adults, and associated risk factors.

Keywords: Baclofen, Implantable pump, Spasticity, Adverse event

MITOCHONDRIA: Mitochondrial OXPHOS (dys) function ex-vivo - the use of primary fibroblasts

MITOCHONDRIA: Mitochondrial OXPHOS (dys) function ex-vivo - the use of primary fibroblasts. Ann Saada, The International Journal of Biochemistry & Cell Biology, Available online 7 January 2014. http://dx.doi.org/10.1016/j.biocel.2013.12.010

Is summarized in this review the usefulness of fibroblasts in culture to verify and study the pathomechanism of new mitochondrial diseases and to evaluate the efficacy of individual treatment options.
The rationale for screening vitamins is that they frequently function as substrates and co-enzymes or as antioxidants and electron donors.

The kinetics of folding of frataxin

The kinetics of folding of frataxin. Daniela Bonetti, Angelo Toto, Rajanish Giri, Angela Morrone, Domenico Sanfelice, Annalisa Pastore, PA Temussi, Stefano Gianni and M Brunori; hys. Chem. Chem. Phys., 2014, Accepted Manuscript DOI: 10.1039/C3CP54055C

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia; Delatycki, M. B., Tai, G., Corben, L., Yiu, E. M., Evans-Galea, M. V., Stephenson, S. E.M., Gurrin, L., Allen, K. J., Lynch, D. and Lockhart, P. J.; Mov. Disord.. doi: 10.1002/mds.25795

Keywords: Friedreich ataxia; HFE; hemochromatosis; genetic modifier; disease severity

Molecular and clinical investigation of Iranian patients with friedreich ataxia.

Molecular and clinical investigation of Iranian patients with friedreich ataxia.. Salehi MH, Houshmand M, Aryani O, Kamalidehghan B, Khalili E., Iran Biomed J. 2014 Jan;18(1):28-33.

BIOMARKERS IN RARE NEUROMUSCULAR DISEASES

BIOMARKERS IN RARE NEUROMUSCULAR DISEASES . Chiara Scotton, Chiara Passarelli, Marcella Neri, Alessandra Ferlini; Experimental Cell Research, Available online 31 December 2013.

FULL TEXT PDF

Agilis Biotherapeutics and Intrexon to Pursue Transformative Therapies for Rare Genetic Disease

Agilis Biotherapeutics and Intrexon to Pursue Transformative Therapies for Rare Genetic Disease. NEW YORK and GERMANTOWN, Md., Dec. 31, 2013 /PRNewswire.

Agilis Biotherapeutics, LLC, a synthetic biology-based company focused on rare genetic diseases, and Intrexon Corporation (NYSE: XON), a leader in synthetic biology, announced today an Exclusive Channel Collaboration (ECC) to develop DNA-based therapeutics for Friedreich's ataxia (FRDA), a rare genetic neurodegenerative disease.

Prevalence of ataxia in children

Prevalence of ataxia in children. Kristin E. Musselman, Cristina T. Stoyanov, Rhul Marasigan, Mary E. Jenkins, Jürgen Konczak, Susanne M. Morton, and Amy J. Bastian; Neurology January 7, 2014 vol. 82 no. 1 80-89, doi: 10.1212/01.wnl.0000438224.25600.6c

The prevalence of childhood ataxias in Europe was estimated to be ∼26/100,000 children and likely reflects a minimum prevalence worldwide. The findings show that ataxia is a common childhood motor disorder with a higher prevalence than previously assumed.

Càpsules de Ciència. Joaquim Ros