Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia

Movement Disorders, Article first published online: 27 JAN 2012 | DOI: 10.1002/mds.24064

Brent L. Fogel, Ji Yong Lee, Jessica Lane, Amanda Wahnich, Sandy Chan, Alden Huang, Greg E. Osborn, Eric Klein, Catherine Mamah, Susan Perlman, Daniel H. Geschwind and Giovanni Coppola

Keywords: cerebellar ataxia, copy number variation, dominant genetic conditions, recessive genetic conditions, spinocerebellar ataxia, adult-onset sporadic ataxia, SCA1, SCA2, SCA3, SCA6, SCA7, Friedreich ataxia.

Iron dysregulation in movement disorders.

Neurobiol Dis. 2012 Jan 12. [Epub ahead of print], http://dx.doi.org/10.1016/j.nbd.2011.12.054,

Petr Dusek a, c, Joseph Jankovic a, Weidong Le b

a Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
b Parkinson's Disease Research Laboratory, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
c Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic

Keywords: Iron, neurodegeneration with brain iron accumulation (NBIA), aceruloplasminemia, neuroferritinopathy, Friedreich's ataxia, Parkinson's disease, Huntington's disease, multiple system atrophy, progressive supranuclear palsy.

A 'Disruptive Science' Ready For Commercial Development - Gene Therapy

Mary Ann Liebert, Inc./Genetic Engineering News. (2012, January 26). "A 'Disruptive Science' Ready For Commercial Development - Gene Therapy." Medical News Today.

"The time for commercial development of gene therapy has come. Patients with diseases treatable and curable with gene therapy deserve access to the technology, which has demonstrated both its effectiveness and feasibility"

The promise of induced pluripotent stem cells in research and therapy

Nature 481, 295–305 (19 January 2012), doi:10.1038/nature10761

Daisy A. Robinton & George Q. Daley

Keywords: stem-cell biology, reprogramming technology, pluripotency, somatic cells, personalized regenerative cell therapies.

Supplementary Table (128K)

The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model

Neurobiology of Disease, Available online 20 January 2012, http://dx.doi.org/10.1016/j.nbd.2012.01.002

Vahid Ezzatizadeh a,Ricardo Mouro Pinto b, Chiranjeevi Sandi a, Madhavi Sandi a, Sahar Al-Mahdawi a, Hein te Riele c, Mark A. Pook a.
a Division of Biosciences, School of Health Sciences and Social Care, Brunel University, Uxbridge, UB8 3PH, UK
b Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA
c Division of Molecular Biology, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands

Keywords: Friedreich ataxia (FRDA), GAA repeat expansion mutation, FXN gene, mismatch repair (MMR) proteins, TNR instability, Msh2, Msh3, Msh6, Pms2,

Oxidative stress induces mitochondrial fragmentation in frataxin-deficient cells

Biochemical and Biophysical Research Communications, Available online 16 January 2012, In Press, Accepted Manuscript. http://dx.doi.org/10.1016/j.bbrc.2012.01.022

Sophie Lefevre a, b, 1, Dominika Sliwa a, 1, Pierre Rustin c, d, Jean-Michel Camadro a, Renata Santos a.
a Mitochondria, Metals and Oxidative Stress Laboratory, Institut Jacques Monod, CNRS-Université Paris-Diderot, Sorbonne Paris Cité, 15 rue Hélène Brion, 75205 Paris cedex 13, France
b ED515 UPMC, 4 place Jussieu 75005 Paris, France
c Inserm, U676, Physiopathology and Therapy of Mitochondrial Disease Laboratory, 75019 Paris, France
d Université Paris-Diderot, Faculté de Médecine Denis Diderot, IFR02, Paris, France

Keywords: Friedreich ataxia (FA), mitochondrial frataxin, iron-sulfur cluster assembly, fragmented mitochondria, oxidative stress, mitochondrial dynamics.

Hippotherapy: An Intervention to Habilitate Balance Deficits in Children With Movement Disorders--A Clinical Trial.

Phys Ther. 2012 Jan 12, Published online before print, doi: 10.2522/​ptj.20110081

Silkwood-Sherer DJ, Killian CB, Long TM, Martin KS.

D.J Silkwood-Sherer, PT, DHS, HPCS, Graduate Program in Physical Therapy, Herbert H. and Grace A. Dow College of Health Professions, 1202 Health Professions Bldg, Central Michigan University, Mt Pleasant, MI 48859 (USA).

Keywords: hippotherapy, children with movement disorders, postural instability, mild to moderate balance problems, Activities Scale for Kids-Performance (ASKp), daily life skills.


Hippotherapy may be a viable treatment strategy for children with mild to moderate balance problems to improve balance deficits and increase performance of daily life skills.

Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells

Nucl. Acids Res. (2012) doi: 10.1093/nar/gks021.

Gurangad S. Chandok 1, Mayank P. Patel 1, Sergei M. Mirkin 2 and Maria M. Krasilnikova
Department of Biochemistry and Molecular Biology, Penn State University, University Park, PA 16802 and 2Department of Biology, Tufts University.

Keyword: Friedreich's ataxia (FRDA),(GAA)n repeat, age-dependent instability, episomal DNA replication, chromatin.

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Reactive Oxygen Species and Aging in Caenorhabditis elegans: Causal or Casual Relationship?

Jeremy Michael Van Raamsdonk and Siegfried Hekimi and. Antioxidants & Redox Signaling. December 15, 2010, 13(12): 1911-1953. doi:10.1089/ars.2010.3215.

Keywords: reactive oxygen species (ROS), aging, Caenorhabditis elegans, frh-1-frataxin

S-Glutathionylation: From Molecular Mechanisms to Health Outcomes

Antioxidants & Redox Signaling. July 1, 2011, 15(1): 233-270. doi:10.1089/ars.2010.3540.

Ying Xiong, Joachim D. Uys, Kenneth D. Tew, and Danyelle M. Townsend.

KEYWORDS: Redox homeostasis, human disease pathologies, glutathione, Friedreich's ataxia