Spinocerebellar degenerations.

Handb Clin Neurol. 2011;100:113-40.

Perlman SL.

Keywords: spinocerebellar ataxias (SCA), cerebellum, hyperkinetic movements, dominant ataxias, recessive ataxias, ataxia telangiectasia, Friedreich's ataxia, Fragile X tremor-ataxia syndrome (FXTAS), multiple-system atrophy, presence of a secondary factor.

A Boolean probabilistic model of metabolic adaptation to oxygen in relation to iron homeostasis and oxidative stress

BMC Systems Biology 2011, 5:51doi:10.1186/1752-0509-5-51

Fiona Achcar, Jean-Michel Camadro and Denis Mestivier

Interesting tool, could be helpful to understand better the role of frataxin in the iron homeostasis in Friedreich's ataxia. It could also provide some light to try to explain the great individual differences between genotype - phenotype.

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Sirt1 acts in association with PPARα to protect the heart from hypertrophy, metabolic dysregulation, and inflammation

Cardiovasc Res (2011) 90 (2): 276-284. doi: 10.1093/cvr/cvq376

Ana Planavila1,2,*, Roser Iglesias1,2, Marta Giralt1,2 and Francesc Villarroya1,2

1Departament de Bioquímica i Biologia Molecular, Institut de Biomedicina de la Universitat de Barcelona (IBUB), Universitat de Barcelona, Avda Diagonal 645, Barcelona E-08028, Spain
2CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Barcelona, Spain

"Collectively, these findings reveal a major involvement of the Sirt1–PPARα interaction in the protective role of Sirt1 against cardiac hypertrophy."

Friedreich's ataxia: Past, present and future

doi:10.1016/j.brainresrev.2011.04.001

Daniele Marmolino,
Laboratoire de Neurologie experimentale, Universite Libre de Bruxeles (ULB), Route de Lennik 808, Campus Erasme - 1070 Bruxelles, Belgium

Keywords: Friedreich's ataxia; Frataxin; GAA; Iron; Fe-S clusters; Oxidative stress; FRDA pathogenesis; frataxin function; new treatments; animal and cellular models.

Project title: Characterising gait and upper limb disorder in Friedreich ataxia

Monash University will launch a new study about Friedreich's ataxia

"This project will enable both clinical and quantified gait and upper limb kinematic assessment and may provide a sensitive measure of functional change in FRDA against which the efficacy of novel interventions can be tested down the track".

Infectious delivery and long-term persistence of transgene expression in the brain by a 135-kb iBAC-FXN genomic DNA expression vector.

Gene Therapy, 14 April 2011; doi:10.1038/gt.2011.45.

Gimenez-Cassina A, Wade-Martins R, Gomez-Sebastian S, Corona JC, Lim F, Diaz-Nido J.

Department of Molecular Neurobiology, Centro de Biología Molecular Severo Ochoa, Cantoblanco, Spain.

Keywords: FRDA, gene-based therapies, long-term persistent transgene expression, entire 135 kb FXN genomic DNA locus, bacterial artificial chromosome (iBAC), herpes simplex virus type 1 (HSV-1), -based vector.

Intellect Neurosciences Files Orphan Drug Application in the United States for Its Clinical Candidate OX1 for the Treatment of Friedreich's Ataxia

NEW YORK, April 12, 2011 (GLOBE NEWSWIRE) -- Intellect Neurosciences, Inc. announced today that it has filed an orphan drug application with the Office of Orphan Products Development of the United States Food and Drug Administration (FDA) to have Orphan Drug Designation granted to its clinical stage drug candidate, OX1 (OXIGON™) for the treatment of Friedreich's Ataxia ("FA").

Mitochondria as a Therapeutic Target for Aging and Neurodegenerative Diseases

Curr Alzheimer Res. 2011 Apr 6.

Reddy PH, Reddy TP.
Neurogenetics Laboratory, Division of Neuroscience, Oregon National Primate Research Center, Oregon Health & Science University

Keywors: Mitochondria, postmortem brain studies, clinical studies, aging, neurodegenerative diseases, phosphorylation, mitochondrial DNA defects, mitochondrial fragmentation, decreased mitochondrial fusion.

New Method Delivers Drug to the Brain

Deliver complex drug into the the CNS is a challenge, the CNS is strongly protected by the BBB, and many substances with therapeutic high potential, frataxin, or even gene therapy, are not useful if they can not reach their therapeutic targets. It is very important to have methods to achieve this goal.

New Method Delivers Alzheimer’s Drug to the Brain
ScienceDaily (Apr. 5, 2011) — Oxford University scientists have developed a new method for delivering complex drugs directly to the brain, a necessary step for treating diseases like Alzheimer's, Parkinson's, Motor Neuron Disease and Muscular Dystrophy. read more...

Original paper: Delivery of siRNA to the mouse brain by systemic injection of targeted exosomes., Nature Biotechnology, 2011; DOI: 10.1038/nbt.1807
Lydia Alvarez-Erviti, Yiqi Seow, HaiFang Yin, Corinne Betts, Samira Lakhal & Matthew J A Wood.
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.

Mitochondria regulate autophagy by conserved signalling pathways

The EMBO Journal advance online publication 5 April 2011; doi:10.1038/emboj.2011.104

Martin Graef and Jodi Nunnari,
Department of Molecular and Cellular Biology, Davis University of California, USA

Keywords: autophagy regulation, mitochondria, protein kinase A, TOR, cellular homeostasis, mitochondrial respiratory deficiency, autophagy gene induction, neurodegeneration.