Exonic Deletions of FXN and Early-Onset Friedreich Ataxia

Arch Neurol. Published online March 12, 2012. doi:10.1001/archneurol.2011.834

Mathieu Anheim, MD, PhD; Louise-Laure Mariani, MD; Patrick Calvas, MD, PhD; Emmanuel Cheuret, MD; Fabien Zagnoli, MD; Sylvie Odent, MD; Claire Seguela, BS; Cecilia Marelli, MD; Marlène Fritsch, BS; Jean-Pierre Delaunoy, PhD; Alexis Brice, MD, PhD; Alexandra Dürr, MD, PhD; Michel Koenig, MD, PhD

Université Pierre et Marie Curie, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre National de la Recherche Scientifique (CNRS) (Drs Anheim, Marelli, Brice, and Dürr), Assistance publique–Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics (Drs Anheim, Mariani, Marelli, Brice, and Dürr), and Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adulte (Drs Anheim, Marelli, Brice, and Dürr), Paris, Service de Génétique Médicale, Université de Toulouse, Hôpital Purpan (Dr Calvas), and Service de neuropédiatrie, Hopital des enfants (Dr Cheuret), Toulouse, Neurologie Hôpital d’Instruction des Armées Clermont-Tonnerre, Brest (Dr Zagnoli), Service de Génétique clinique CHU de Rennes, Université Rennes 1, CNRS (Dr Odent), Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Strasbourg (Mesdames Seguela and Fritsch and Drs Delaunoy and Koenig), and Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, Université de Strasbourg, INSERM, Illkirch (Dr Koenig), France.

Keywords: Friedreich ataxia (FA), early onset, homozygous GAA expansions, FXN gene, point mutation, exonic deletion mutation (FAexdel), confinement to wheelchair, scoliosis, diabetes mellitus, cardiomyopathy.

The effect of lipoic acid and vitamin E therapies in individuals with the metabolic syndrome

Although there are large differences between FA and the metabolic syndrome, mitochondrial function is significantly impaired in both. Many ataxians are taking on a regular basis lipoic acid (ALA) and Vitamin E, it is interesting to know their effects on the heart and on insulin and glucose levels.

Nutrition, Metabolism & Cardiovascular Diseases - 09 March 2012,(10.1016/j.numecd.2011.11.006)

P.J. Manning, W.H.F. Sutherland, S.M. Williams, R.J. Walker, E.A. Berry, S.A. De Jong, A.R. Ryalls
Department of Medicine, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand

KEYWORDS: Antioxidant, Metabolic syndrome, Non esterified fatty acids, Lipoic acid, Vitamin E