Friedreich’s ataxia in patients with FXN p.R165P point mutation

Friedreich’s ataxia in patients with FXN p.R165P point mutation. E. Ygland, F. Taroni, C. Gellera, M. Duno, P. Johnels, M. Soller, A. Puschmann; Neurogenetics, EFNS European Journal of Neurology 19 (Suppl. 1), 458–807.

Keywords: Friedreich’s ataxia (FRDA), postural ataxia, dysarthria, neuropathy, muscle weakness, cardiomyopathy, frataxin, GAA trinucleotide expansions in FXN, point mutation, FXN p.R165P missense mutation, FRDA rating scale (FARS), hemochromatosis, iron metabolism.

Friedreich’s ataxia with GAA expansion and ataxia with vitamin E deficiency with 744 DelA mutation in a Moroccan population.

Friedreich’s ataxia with GAA expansion and ataxia with vitamin E deficiency with 744 DelA mutation in a Moroccan population. F. Imounan, N. Bouslam, W. Regragui, E.H. Ait Benhaddou, A. Bouhouche, A. Benomar, M. Yahyaoui, Neurogenetics Study Group; Neurogenetics, EFNS European Journal of Neurology 19 (Suppl. 1), 458–807.

Keywords: Friedreich’s ataxia, ataxia with vitamin E deficiency (AVED), 744 delA mutation, GAA expanded allele, alphatocopherol treatment.

T.P.15 An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia

T.P.15 An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia. E.M. Yiu, R. Peverill, G. Tai, C. Stockley, J. Sarsero, M. Evans-Galea, A. Churchyard, L. Corben, K. Lee, M.M. Ryan, M.B. Delatycki; Neuromuscular Disorders, Volume 22, Issues 9–10, October 2012, Page 851

Keywords: Friedreich ataxia (FRDA), Resveratrol, plant-derived compound, frataxin expression, anti-oxidant, neuroprotective, open-label sequential clinical pilot study, lymphocyte frataxin levels, FXN mRNA expression, markers of oxidative stress, clinical measures of FRDA, echocardiography, safety, pharmacokinetic data.