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."

Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells

Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells. Sophie Lefevre, Caroline Brossas, Françoise Auchère, Nicole Boggetto, Jean-Michel Camadro, and Renata Santos. Hum. Mol. Genet. first published online June 16, 2012 doi:10.1093/hmg/dds230

OPEN ACCESS   FULL TEXT

KEYWORDS: Frataxin-deficiency, mitochondrial dysfunction, oxidative stress, Friedreich ataxia, respiratory deficit, disturbed iron homeostasis, sensitivity to oxidants, Apn1 enzyme, DNA damage.

Iron and neurodegeneration: from cellular homeostasis to disease.

Iron and neurodegeneration: from cellular homeostasis to disease. Batista-Nascimento L, Pimentel C, Andrade Menezes R, Rodrigues-Pousada C.Oxid Med Cell Longev. 2012;2012:128647. Epub 2012 May 30.

 Keywords: Accumulation of iron (Fe), neurodegenerative diseases, Parkinson's, Alzheimer's, Huntington's diseases, Friedreich's ataxia, neuroferritinopathy, Fe misregulation, oxidative stress, therapeutic strategies, metalloneurobiology.

A generalizable pre-clinical research approach for orphan disease therapy

A generalizable pre-clinical research approach for orphan disease therapy. Review. Beaulieu CL, Samuels ME, Ekins S, McMaster CR, Edwards AM, Krainer AR, Hicks GG, Frey BJ, Boycott KM, MacKenzie AE. Orphanet Journal of Rare Diseases 2012, 7:39 (15 June 2012).

OPEN ACCESS  FULL TEXT