Neurodegeneration with brain iron accumulation - Clinical Syndromes And Neuroimaging -

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
Article in Press, doi:10.1016/j.bbadis.2011.06.016

Hyman M. Schipper,
Centre for Neurotranslational Research, Lady Davis Institute, Jewish General Hospital, Departments of Neurology & Neurosurgery and Medicine McGill University, Montreal, Quebec, Canada

Keywords: Iron, neurotoxic reactive oxygen species, body iron homeostasis, neurodegeneration with brain iron accumulation (NBIA), clinical syndromes and neuroimaging, magnetic resonance scanning, Friedreich ataxia (FA), pantothenate kinase 2-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), FA2H-associated neurodegeneration (FAHN), Kufor-Rakeb disease (KRD), aceruloplasminemia, neuroferritinopathy.

Disabilità e terapia occupazionale nei pazienti con atassia di Friedreich

G Ital Med Lav Erg 2011; 33:2, 201-204

Irene Ciancarelli1,2, Vincenza Cofini1, Antonio Carolei3
1 Dipartimento di Medicina Interna e Sanità Pubblica - Università degli Studi di L’Aquila
2 Casa di cura di Riabilitazione Nova Salus - Trasacco
3 Clinica Neurologica - Dipartimento di Medicina Interna e Sanità Pubblica - Università degli Studi di L’Aquila

Keywords: Friedreich ataxia, occupational therapy, neuromotor
rehabilitation.

Overexpression of Human and Fly Frataxins in Drosophila Provokes Deleterious Effects at Biochemical, Physiological and Developmental Levels

PLoS ONE 6(7): e21017. doi:10.1371/journal.pone.0021017

OPEN ACCESS

Juan A. Navarro1#, José V. Llorens2,3#*, Sirena Soriano2, José A. Botella1, Stephan Schneuwly1, María J. Martínez-Sebastián2, María D. Moltó2,4

1 Institute of Zoology, University of Regensburg, Regensburg, Germany, 2 Departament de Genètica, Universitat de València, Burjassot, Valencia, Spain, 3 Instituto de Biomedicina, CSIC, Valencia, Spain, 4 CIBERSAM (Centro de Investigación Biomédica en Red de Salud Mental), Madrid, Spain

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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