Friday, April 1, 2011

Efficient mining of haplotype patterns for linkage disequilibrium mapping.

J Bioinform Comput Biol. 2010, Volume: 8, Supplementary Issue 1(2010) pp. 127-146 DOI: 10.1142/S0219720010005142

Lin L, Wong L, Leong TY, Lai PS (*).
School of Computing, National University of Singapore, Singapore.
(*) Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore

OPEN ACCESS, full text pdf

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3.2. Friedreich ataxia
Friedreich ataxia is an autosomal recessive degenerative disease that involves the
central and peripheral nervous system and the heart. The friedreich ataxia dataset
was first reported by Liu et al. for linkage disequilibrium mapping. This dataset
contains 58 disease haplotypes and 69 control haplotypes with 12 microsatellite
markers. The gene is located between the fifth and sixth markers, approximately
9.8125cM away from the leftmost marker. The total region size in this study
is 15 cM.
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Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol

This presentation is interesting because makes a short review and shows an overview of the various current theories on the possible functions of frataxin and its relationship with the FA

Monday, March 28, 2011

HDAC1 and HDAC2 control the transcriptional program of myelination and the survival of Schwann cells

Nature Neuroscience 14, 429–436, (2011) doi:10.1038/nn.2762
Published online, 20 March 2011.

Claire Jacob, Carlos N Christen, Jorge A Pereira, Christian Somandin, Arianna Baggiolini, Pirmin Lötscher, Murat Özçelik, Nicolas Tricaud, Dies Meijer, Teppei Yamaguchi, Patrick Matthias & Ueli Suter

In Schwann cells, HDAC1 and HDAC2 exert specific primary functions: HDAC2 activates the transcriptional program of myelination in synergy with Sox10, whereas HDAC1 controls Schwann cell survival.

Sunday, March 27, 2011

Stem Cell Research May Lead To New Treatments For Parkinson's Disease, Huntington's Disease, Multiple Sclerosis, Stroke, Spinal Cord Injury

Medical News Today, Article Date: 26 Mar 2011

As always, they forget the rare diseases, but I think this aproach is also useful for FA.

A group of scientists at Marshall University is conducting research that may someday lead to new treatments for repair of the central nervous system.

Price said the neurons they found appear to have many of the qualities desired for cells being used in development of therapies for slowly progressing, degenerative conditions

Multipotent progenitor cells derived from adult peripheral blood of swine have high neurogenic potential in vitro. Nadja Spitzer, Gregory S. Sammons, Heather M. Butts, Lawrence M. Grover, Elmer M. Price.Journal of Cellular Physiology, 2011; DOI: 10.1002/jcp.22670

Thursday, March 24, 2011

Short-term low-frequency electrical stimulation enhanced remyelination of injured peripheral nerves by inducing the promyelination effect of brain-derived neurotrophic factor on Schwann cell polarization

J Neurosci Res. 2010 Sep;88(12):2578-87.

Wan L, Zhang S, Xia R, Ding W.
Department of Anatomy, Medical College of Nanchang University, Nanchang 330006, China.

Keywords: Electrical stimulation (ES), nerve injuries, direct neurite outgrowth, peripheral remyelination, P0, Par-3, brain-derived neurotrophic factor (BDNF), dorsal root ganglion neuron/Schwann cell, 20-Hz ES, Schwann cell myelination.

Wednesday, March 16, 2011

Surgical treatment of neurological scoliosis using hybrid construct (lumbar transpedicular screws plus thoracic sublaminar acrylic loops).

Eur Spine J. 2011 Mar 15

La Rosa G, Giglio G, Oggiano L.
Department of Paediatric Surgery, Orthopaedic Unit, Research Institute Paediatric Hospital Bambino Gesù Palidoro, Fiumicino, Italy.

Keywords: segmental spine instrumentation, Cotrel-Dobousset (CD), sublaminar acrylic loops (Universal Clamp), spinal fixation implant, neurologic scoliosis, Socore TM spinal assembly, transpedicular lumbar screws, thoracic hooks, cerebral palsy, Friedreich ataxia, Aicardi syndrome, short operative time, low vascular and neurologic risks.

Cotrel-Dubousset instrumentation in neuromuscular scoliosis.

Eur Spine J. 2011 Mar 15.

Piazzolla A, Solarino G, De Giorgi S, Mori CM, Moretti L, De Giorgi G.

Dipartimento di Metodologia Clinica e Tecnologie Medico Chirurgiche, Università degli Studi di Bari, Bari, Italy.

Keywords: retrospective study, neuromuscular scoliosis (NMS), Spinal deformity, brace, surgery, solid spinal fusion, Cotrel-Dubousset (CD) surgical technique, Friedreich's ataxia, cerebral palsy, muscular dystrophy, polio, syringomyelia, spinal atrophy, kyphosis, lordosis.

Tuesday, March 15, 2011

Protein That Keeps Brain Signals Intact Yields Clue To Disorders

Medical News Today, Article Date: 14 Mar 2011

Researchers at the University of Edinburgh in the UK have found a new clue for understanding neurological disorders that occur when the brain can't send signals to other parts of the body.

Original paper:

"A Critical Role for Neurofascin in Regulating Action Potential Initiation through Maintenance of the Axon Initial Segment."
Barbara Zonta, Anne Desmazieres, Arianna Rinaldi, Steven Tait, Diane L. Sherman, Matthew F. Nolan, Peter J. Brophy.
Neuron, 10 March 2011 (Vol. 69, Issue 5, pp. 945-956).
DOI:10.1016/j.neuron.2011.02.021

FULL TEXT PDF

Monday, March 14, 2011

Mitochondria-Targeted Small Molecule Therapeutics and Probes

Antioxidants & Redox Signaling. doi:10.1089/ars.2011.3969.

Robin A Smith, Dunedin, New Zealand; Richard C Hartley, Glasgow, United Kingdom; MIke Murphy, MRC, Mitochondrial Biology Unit, Cambridge, United Kingdom

Saturday, March 12, 2011

Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA).

Am Heart J. 2011 Mar;161(3):639-645.e1. Epub 2011 Jan 31.

Lagedrost SJ, Sutton MS, Cohen MS, Satou GM, Kaufman BD, Perlman SL, Rummey C, Meier T, Lynch DR.

Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA; The Children's Hospital of Philadelphia, Philadelphia, PA.

CONCLUSIONS: The study does not provide evidence of benefit in this cohort over a 6-month treatment period.