Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich’s ataxia

Nucl. Acids Res. (2011) doi: 10.1093/nar/gkr542 First published online: July 10, 2011

Eunah Kim1,2, Marek Napierala1,2,* and Sharon Y. R. Dent1,2,*
1The Department of Molecular Carcinogenesis, University of Texas MD Anderson Cancer Center Science Park, Smithville, Texas 78957 and 2The Genes and Development Program, Graduate School of Biomedical Sciences and the Center for Cancer Epigenetics, University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA

Keywords: Friedreich’s ataxia (FRDA), biallelic expansion of GAA repeats, frataxin (FXN) gene, chromatin modifications, chromatin immunoprecipitation, quantitative PCR, histone modifications, block of transition from initiation to a productive elongation.


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Update on degenerative ataxias.

Curr Opin Neurol. 2011 Aug;24(4):339-45.

Klockgether T.
Department of Neurology, University Hospital Bonn and German Center for Neurodegenerative Disorders (DZNE), Bonn, Germany.

Keywords: Degenerative ataxias, acquired ataxias, hereditary ataxias, nonhereditary degenerative ataxias, molecular genetic analysis, imaging studies, clinical assessment methods.

The Frataxin Homologue Fra Plays a Key Role in Intracellular Iron Channeling in Bacillus subtilis

ChemBioChem, 12: n/a. doi: 10.1002/cbic.201100190
Albrecht, A. G., Landmann, H., Nette, D., Burghaus, O., Peuckert, F., Seubert, A., Miethke, M. and Marahiel, M. A. (2011),

Keywords: Bacillus subtilis, frataxin, iron, metalloproteins, metalloproteomics

The Potential Investment Impact of Improved Access to Accelerated Approval on the Development of Treatments for Low Prevalence Rare Diseases

Orphanet Journal of Rare Diseases 2011, 6:49 (6 July 2011)

Miyamoto BE, Kakkis ED

OPEN ACCESS

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Accelerating access to treatments for rare diseases

Nature Reviews Drug Discovery 10, 475-476 (July 2011) | doi:10.1038/nrd3493
Marc Dunoyer

Changes in regulatory policy and legislative incentives to promote the development of drugs for rare diseases — orphan drugs — have led to increases in the number of orphan drug designations, but the rate of such products reaching the market remains frustratingly flat. This article highlights areas in which novel approaches could facilitate regulatory approval and access to treatments for rare diseases.

Gait Pattern in Inherited Cerebellar Ataxias.

Cerebellum. 2011 Jun 30. [Epub ahead of print]

Serrao M, Pierelli F, Ranavolo A, Draicchio F, Conte C, Don R, Di Fabio R, Lerose M, Padua L, Sandrini G, Casali C.
Department of Medical and Surgical Science and Biotechnologies, Sapienza University of Rome

Keywords: features of gait, ataxias, autosomal dominant (spinocerebellar ataxia, SCA1 or 2), recessive (Friedreich's ataxia, FRDA) ataxia, motion analysis system, gait kinematic, kinetic data, International Cooperative Ataxia Rating Scale (ICARS).

A gene expression phenotype in lymphocytes from Friedreich's Ataxia patients

Annals of Neurology, DOI: 10.1002/ana.22526

Giovanni Coppola MD, Ryan Burnett PhD, Susan Perlman MD, Revital Versano,Fuying Gao, Heather Plasterer PhD, Myriam Rai PhD, Francesco Saccá MD, Alessandro Filla MD, David R. Lynch MD PhD, James R. Rusche PhD, Joel M. Gottesfeld PhD, Massimo Pandolfo MD, Daniel H. Geschwind MD PhD.

Keywords: Biomarker; Gene expression; Friedreich's ataxia; Therapy

6th International Conference on Fe‐S Protein Biogenesis and Regulation

6th International Conference on
Fe‐S Protein Biogenesis and Regulation
22 – 25 August 2011 in Cambridge, UK

The Fitts task reveals impairments in planning and online control of movement in Friedreich ataxia: reduced cerebellar-cortico connectivity?

Neuroscience, doi:10.1016/j.neuroscience.2011.06.057, Available online 25 June 2011.

Louise A. Corben 1, 2, Nellie Georgiou-Karistianis 2, John L. Bradshaw 2, Darren R. Hocking 3, Andrew J. Churchyard 4 and Martin B. Delatycki 1, 5, 6

1 Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
2 Experimental Neuropsychology Research Unit, School of Psychology and, Psychiatry, Monash University, Clayton, Victoria, Australia
3 Developmental Neuroscience and Genetic Disorders Laboratory, School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia
4 Monash Neurology, Monash Medical Centre, Clayton, Victoria, Australia
5 Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
6 Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia

KEYWORDS: Friedreich ataxia (FRDA), cognitive and/or psychomotor capacity, cerebellum, cortex, Fitts’ Law, preplanning of movement, online error detection and correction, prefrontal/anterior regions.

Case Report : Massive uterine leiomyoma in a patient with Friedreich’s ataxia: Is there a possible association?

Case Reports in Medicine, Received 26 May 2011; Accepted 24 June 2011

Evangelos Misiakos, Elli Siama, Dimitrios Schizas, Constantinos Petropoulos, Nick Zavras, Nikos Economopoulos, Alexandros Charalabopoulos, and Anastasios N. Macheras
University of Athens School of Medicine, Athens, Greece.

KEYWORDS: Friedreich’s ataxia, leiomyoma, intestinal obstruction, tumor excision, adhesionlysis, "neoplasms uncommon for their young age".

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