Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function

Mitochondrion, Article in Press, Accepted Manuscript, doi:10.1016/j.mito.2010.12.003

Mary A. Selak a, Elise Lyver b, Elizabeth Micklow b, Eric C. Deutsch c, Ozlem Onder d, Nur Selamoglu d, Claire Yager a, Simon Knight b, Martin Carroll b, Fevzi Daldal d, Andrew Dancis b, David R. Lynch c and Jean-Emmanuel Sarry b,

a Children's Hospital of Philadelphia Research Institute, Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA
b Division of Hematology/Oncology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
c Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine, and Children's Hospital of Philadelphia, Philadelphia, PA, USA
d Department of Biology, University of Pennsylvania, Philadelphia, PA, USA

KEYWORDS: Friedreich ataxia (FRDA), frataxin, neurons, cardiomyocytes, platelets, peripheral blood mononuclear cells, mitochondria, biomarkers.

Restless legs syndrome in Friedreich ataxia: A polysomnographic study

Movement Disorders, n/a. doi: 10.1002/mds.22769 (Early View (Articles online in advance of print)
Frauscher, B., Hering, S., Högl, B., Gschliesser, V., Ulmer, H., Poewe, W. and Boesch, S. M.

Keywords: sleep disturbance, restless legs syndrome, Friedreich ataxia, Frataxin, ferritin, periodic leg movements, polysomnography.