Neuro-orthopaedic evaluation of children and adolescents: A simplified algorithm

Neuro-orthopaedic evaluation of children and adolescents: A simplified algorithm ; J. Cottalorda, P. Violas, R. Seringe, the French Society of Pediatric Orthopaedics. Orthopaedics & Traumatology: Surgery & Research, Available online 30 August 2012

Orthopaedic surgeons are often the first physicians to evaluate paediatric patients in the event of delayed walking, gait abnormalities, or parental concern about motor abilities......

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.

"SILEC: A new tool to study mitochondrial and metabolic disease"

"SILEC: A new tool to study mitochondrial and metabolic disease" . Sankha S Basu, University of Pennsylvania (January 1, 2012). Dissertations available from ProQuest. Paper AAI3508967. http://repository.upenn.edu/dissertations/AAI3508967

Keywords: Coenzyme A (CoA), CoA thioesters, Stable Isotope Labeling with Essential nutrients in Cell culture (SILEC), [13C15N]-pantothenate, glutathione-CoA (CoASSG), Friedreich's Ataxia (FA), frataxin, novel biomarkers.

A Review of Friedreich Ataxia Clinical Trial Results

A Review of Friedreich Ataxia Clinical Trial Results; Susan L. Perlman, MD; J Child Neurol September 2012 vol. 27 no. 9 1217-1222, doi: 10.1177/0883073812453872

Keywords: therapeutic agents, Friedreich ataxia research pipeline (http://www.curefa.org/pipeline.html), frataxin gene, ClinicalTrials.gov, translational and clinical research.

Resonancia Magnética Nuclear de cráneo en primeras familias cubanas diagnosticadas con ataxia de Friedreich

Resonancia Magnética Nuclear de cráneo en primeras familias cubanas diagnosticadas con ataxia de Friedreich; Tania Cruz Mariño, José Alberto Álvarez Cuesta, Raúl Aguilera Rodríguez, Luis Velásquez Pérez; Ciencias Holguín, Revista trimestral, Año XVII, Enero-marzo, 2011.

Nuclear Magnetic Resonance skull in Cuban families first diagnosed with Friedreich's ataxia

 Full text Spanish, Abstrac English

Keywords: RESONANCIA MAGNÉTICA NUCLEAR; ATAXIA DE FRIEDREICH; ATAXIAS HEREDITARIAS; NUCLEAR MAGNETIC RESONANCE, FRIEDREICH'S ATAXIA, HEREDITARY ATAXIA.

DNA Mismatch Repair Complex MutSβ Promotes GAA·TTC Repeat Expansion

DNA Mismatch Repair Complex MutSβ Promotes GAA·TTC Repeat Expansion ; Anasheh Halabi, Scott Ditch, Jeffrey Wang, and Ed Grabczyk; J. Biol. Chem. 2012 287: 29958-29967. First Published on July 11, 2012, doi:10.1074/jbc.M112.356758

Keywords: DNA repair, CAG·CTG repeat expansion, Friedreich ataxia (FRDA), human cellular model, expansion rate, DNA repair enzymes, MutSβ, MSH2, MSH3, FXN gene. therapeutic target.

Hypertrophic Cardiomyopathy–What Is New?

Hypertrophic Cardiomyopathy–What Is New?; P. Gregor, K. Curila; Cor et Vasa, Available online 22 August 2012, ISSN 0010-8650, 10.1016/j.crvasa.2012.08.005. (http://www.sciencedirect.com/science/article/pii/S0010865012000975?v=s5)

Keywords: Hypertrophic cardiomyopathy; Myocardial hypertrophy; Therapy of hypertrophic; Cardiomyopathy; Septal myectomy; Percutaneous septal myocardial ablation

MDA Commits $10.7 Million to Neuromuscular Disease Research

QUEST, MDA'S Research & Health Magazine; July-September 2012 Issue, Tuesday August 21, 2012

Friedreich's Ataxia-specific grant: Investigators will be studying how Schwann cells cause nerve damage (neuropathy) in Friedreich's ataxia.