Saturday, June 30, 2012

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.

Thursday, June 28, 2012

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.

Monday, June 18, 2012

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

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

Saturday, June 16, 2012

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

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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).

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Wednesday, June 13, 2012

Stem Cell Therapy Shows Prospects For Severe Neurological Diseases

ENS 2012. "Stem Cell Therapy Shows Prospects For Severe Neurological Diseases." Medical News Today. MediLexicon, Intl., 13 Jun. 2012. Web.

 "There are a number of highly promising research findings today, which could pave the way to completely new types of stem cell therapies for severe neurological diseases"  

At the moment, there is one central message for neurological patients: These therapies are still in an experimental stage.

Complete FXN Deletion in a Patient with Friedreich's Ataxia

Complete FXN Deletion in a Patient with Friedreich's Ataxia . Ans M.W. van den Ouweland, Rick van Minkelen, Galhana M. Bolman, Cokkie H. Wouters, Cindy Becht-Noordermeer, Wout H. Deelen, J. Marianne C. Deelen–Manders, Elly P.F. Ippel, Jasper Saris, and Dicky J.J. Halley. Genetic Testing and Molecular Biomarkers. -Not available-, ahead of print. doi:10.1089/gtmb.2012.0012.

Keywords: Friedreich's ataxia (FRDA), homozygous, GAA repeat expansion, FXN, heterozygous, point mutation, intragenic FXN deletion.

Monday, June 11, 2012

Nanotechnology—novel therapeutics for CNS disorders

Nanotechnology—novel therapeutics for CNS disorders, Review. Maya Srikanth & John A. KesslerNature Reviews Neurology 8, 307-318 (June 2012) | doi:10.1038/nrneurol.2012.76

Keywords: CNS disorders, Nanotechnology, blood–brain barrier, target specific cell, vehicles for gene delivery, promote axon elongation, support cell survival, neurodegenerative disease, malignant brain tumours, neuroregeneration.

Thursday, June 7, 2012

Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint.

Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint.Rosen KM, Folker JE, Vogel AP, Corben LA, Murdoch BE, Delatycki MB.J Neurol. 2012 Jun 6. Keywords: clinical endpoints, Friedreich ataxia, dysarthria, ANOVA, acoustic measures, utterance duration, spectral changes.

Tuesday, June 5, 2012

Lactate, a product of glycolytic metabolism, inhibits histone deacetylase activity and promotes changes in gene expression

Lactate, a product of glycolytic metabolism, inhibits histone deacetylase activity and promotes changes in gene expression,Tom Latham, Logan Mackay, Duncan Sproul, Muhammed Karim, Jayne Culley, David J Harrison, Larry Hayward, Pat Langridge-Smith, Nick Gilbert and Bernard H Ramsahoye. Nucl. Acids Res. (2012) 40 (11): 4794-4803. doi: 10.1093/nar/gks066

Monday, June 4, 2012

Stem cell research: Regulating translational application

Stem cell research: Regulating translational application. Nature Cell Biology 14, 557 (2012), doi:10.1038/ncb2517. Published online 30 May 2012

Keywords: stem cell research, regenerative medicine, to cure diseases, basic research, translational potential, clinical trials, adult mesenchymal stem cells, China unapproved stem cell treatments, X-Cell Center in Germany.

Sunday, June 3, 2012

Acute onset of Friedreich's ataxia mimicking ataxic polyneuropathy

Acute onset of Friedreich's ataxia mimicking ataxic polyneuropathy, B. Miguel, A. Hernández, J. Domínguez, C. Valencia, A. López, M.A. Del Real (Ciudad Real, ES). 22nd Meeting of the European Neurological Society, 09.06.2012 - 12.06.2012 General neurology I, Sunday, June 10, 2012, 11:30 - 12:30

Keyword: Friedreich Ataxia (FA), autosomal recessive inheritance, expanded trinucleotide (GAA) repeat, frataxin gene, neurologic dysfunction, cardiomyopathy, diabetes mellitus.

Friday, June 1, 2012

4.Electromyography test as diagnostic procedure in recessive cerebellar ataxias

4.Electromyography test as diagnostic procedure in recessive cerebellar ataxias, V. Milic Rasic,S. Todorovic, V. Brankovic,I. Novakovic,J. Baets, S. Vermeer. Clinical Neurophysiology, Volume 123, Issue 7 , Page e78, July 2012.

No abstract is available.