Cardiac Transplantation in Friedreich Ataxia

Cardiac Transplantation in Friedreich Ataxia. Yoon G, Soman T, Wilson J, George K, Mital S, Dipchand AI, McCabe J, Logan W, Kantor P. J Child Neurol 0883073812448229, first published on June 29, 2012 as doi:10.1177/0883073812448229

Keywords:  Friedreich ataxia, cardiac transplantation, left ventricular failure, dilated cardiomyopathy, neurological disease, dysarthria, weakness, mild gait impairment, limb ataxia, ethical issues.

Novel Diagnostic Paradigms for Friedreich Ataxia

Novel Diagnostic Paradigms for Friedreich Ataxia.. Brigatti KW, Deutsch EC, Lynch DR, Farmer JM., J Child Neurol 0883073812448440, first published on June 29, 2012 as doi:10.1177/0883073812448440

Keywords: Friedreich ataxia, lateral-flow immunoassay, quantify the frataxin protein, biomarker for clinical trials, gene dosage analysis.

Clinical Features of Friedreich Ataxia.

Clinical Features of Friedreich Ataxia. Martin B. Delatycki and Louise A. Corben. J Child Neurol 0883073812448230, first published on June 29, 2012 as doi:10.1177/0883073812448230

Keywords: Friedreich ataxia, FXN, central and peripheral nervous system, progressive ataxia, absent lower limb reflexes, upgoing plantar responses, peripheral sensory neuropathy, cardiomyopathy, diabetes mellitus.

Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants

Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants Sean R. Regner, Nicholas S. Wilcox, Lisa S. Friedman, Lauren A. Seyer, Kim A. Schadt, Karlla W. Brigatti, Susan Perlman, Martin Delatycki, George R. Wilmot, Christopher M. Gomez, Khalaf O. Bushara, Katherine D. Mathews, S. H. Subramony, Tetsuo Ashizawa, Bernard Ravina, Alicia Brocht, Jennifer M. Farmer, and David R. Lynch. J Child Neurol 0883073812448462, first published on June 29, 2012 doi:10.1177/0883073812448462

Keywords: Friedreich ataxia, ataxia, dysarthria, areflexia, large international noninterventional cohort (n = 410), Friedreich Ataxia Rating Scale.

Auditory Processing Deficits in Children With Friedreich Ataxia.

Auditory Processing Deficits in Children With Friedreich Ataxia. Rance G, Corben L, Delatycki M. J Child Neurol June 29, 2012 0883073812448963

Keywords: Friedreich ataxia, auditory neuropathy, personal FM-listening systems, auditory function tests.

Surgical treatment of neuromuscular scoliosis: current techniques.

Surgical treatment of neuromuscular scoliosis: current techniques.Greggi T, Lolli F, Di Silvestre M, Martikos K, Vommaro F, Maredi E, Giacomini S, Baioni A, Cioni A. Stud Health Technol Inform. 2012;176:315-8.

Keywords: posterior only instrumented fusion, cerebral palsy (13 cases), Duchenne muscular dystrophy (7), spinal amyotrophy (7), myelomeningocele (5), poliomyelitis (3), Friedreich's ataxia (2), Escobar syndrome (2), Steinert's disease (1), Charcot Marie Tooth disease (1), safe and effective procedure, limited respiratory function.

DNA triplex structures in neurodegenerative disorder, Friedreich’s ataxia

DNA triplex structures in neurodegenerative disorder, Friedreich’s ataxia. Moganty R Rajeswari. J. Biosci. 37 1–14] DOI 10.1007/s12038-012-9219-1.

Keywords: DNA triple helix, Friedreich’s ataxia, (GAA) repeats, triplet repeat expansion (TRE),(R∙R*Y) type of triplex, neurodegenerative disorder.

A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial

A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial. Lynch, D. R., Willi, S. M., Wilson, R. B., Cotticelli, M. G., Brigatti, K. W., Deutsch, E. C., Kucheruk, O., Shrader, W., Rioux, P., Miller, G., Hawi, A. and Sciascia, T. Mov. Disord.. doi: 10.1002/mds.25058.

Keywords: A0001 (α-tocopheryl quinone; EPI-A0001), potent antioxidant, in vitro measures, glucose metabolism, neurological function, Friedreich ataxia, in vitro study, double-blind, randomized, placebo-controlled trial, disposition Index, diabetic tendency, glucose tolerance test, Friedreich Ataxia Rating Scale.

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia. Martelli A, Friedman LS, Reutenauer L, Messaddeq N, Perlman SL, Lynch DR, Fedosov K, Schulz JB, Pandolfo M, Puccio H. Dis Model Mech. 2012 Jun 26. [Epub ahead of print]

Keywords: Friedreich's ataxia (FRDA),  cancer, neoplasia, USA, Australia and Europe.

Oxidative stress inhibits axonal transport: implications for neurodegenerative diseases

Oxidative stress inhibits axonal transport: implications for neurodegenerative diseases. Cheng Fang, Dennis Bourdette and Gary Banker. Molecular Neurodegeneration 2012, 7:29 doi:10.1186/1750-1326-7-29. Published: 18 June 2012

OPEN ACCESS,  FULL TEXT

 "These results indicate that inhibition of axonal transport is an early consequence of exposure to ROS and may contribute to subsequent axonal degeneration."