The countdown for rare disease strategies is underway

The countdown for rare disease strategies is underway. The Lancet Neurology, Volume 12, Issue 1, Page 1, January 2013

Keywords: Rare Disease Day, national plans and strategies, European Organisation for Rare Diseases (EURODIS), to raise awareness, NEUROMICS project, registries, US National Association for Rare Disorders (NORD), Canadian Organization for Rare Disorders (CORD).

Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation

Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation. Rajesh Verma, Mani Gupta. BMJ Case Reports 2012; doi:10.1136/bcr-2012-007496

Keywords: progressive gait ataxia, type 1 diabetes mellitus, babinski sign, Romberg's sign,deep tendon reflexes, Electrocardiogram, echocardiogram.

TREATMENT OF FRATAXIN (FXN) RELATED DISEASES BY INHIBITION OF NATURAL ANTISENSE TRANSCRIPT TO FXN

TREATMENT OF FRATAXIN (FXN) RELATED DISEASES BY INHIBITION OF NATURAL ANTISENSE TRANSCRIPT TO FXN. CuRNA, Inc.; COLLARD, Joseph;
KHORKOVA SHERMAN, Olga. Patent application number WO2012/170771A1

Functional Consequences of Oculomotor Disorders in Hereditary Cerebellar Ataxias.

Functional Consequences of Oculomotor Disorders in Hereditary Cerebellar Ataxias. Alexandre MF, Rivaud-Péchoux S, Challe G, Durr A, Gaymard B.; Cerebellum. 2012 Dec 14. [Epub ahead of print].

Keywords: Saccadic eye movements, spino-cerebellar and Friedreich ataxia.

Mitochondria in Pediatric Cardiovascular Diseases

Mitochondria in Pediatric Cardiovascular Diseases. José Marín-García M.D.,
Mitochondria and Their Role in Cardiovascular Disease, 2013, pp 245-270

Keywords: cardiac mitochondrial respiratory enzymes, dilated and hypertrophic cardiomyopathy, mitochondrial cardiomyopathy, neurological disorders, cardioneuropathies.

The molecular biology of Friedreich ataxia

JBC Podcasts: The molecular biology of Friedreich ataxia.

Interview of ELENA HIDALGO, Principal Investigator, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain

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Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients

Substantia Nigra Echogenicity in Friedreich’s Ataxia Patients. María Sierra, Jon Infante,
José Berciano. The Cerebellum, December 2012.

Keeywords: substantia nigra (SN) hypoechogenicity, Friedreich’s ataxia (FRDA), restless syndrome (RLS).

[Late-onset Friedreich's ataxia with preservation of osteomuscular reflexes].

[Late-onset Friedreich's ataxia with preservation of osteomuscular reflexes]. Garcia-Estevez DA. Rev Neurol. 2012 Dec 16;55(12):765-7.

[Article in Spanish]

Autophagy induction extends lifespan and reduces lipids content in response to frataxin silencing in C. elegans

Autophagy induction extends lifespan and reduces lipids content in response to frataxin silencing in C. elegans.. Alfonso Schiavi, Alessandro Torgovnick, Alison Kell, Evgenia Megalou, Natascha Castelein, Ilaria Guccini, Laura Marzocchella, Sara Gelino, Malene Hansen, Florence Malisan, Ivano Condo’, Roberto Bei, Shane Rea, Bart P. Braeckman, Nektarios Tavernarakis, Roberto Testi, Natascia Ventura. Experimental Gerontology, Available online 13 December 2012; http://dx.doi.org/10.1016/j.exger.2012.12.002,

Keywords: aging, nematode, mitochondria, frataxin, p53/cep-1, autophagy, fat, lipid metabolism, Beclin, Friedreich ataxia.

Common data elements for clinical research in Friedreich's ataxia

Common data elements for clinical research in Friedreich's ataxia. David R. Lynch MD PhD, Massimo Pandolfo MD, Jorg B. Schulz MD, Susan Perlman MD, Martin B. Delatycki MD PhD, R. Mark Payne MD, Robert Shaddy MD, Kenneth H. Fischbeck MD, Jennifer Farmer MS, Paul Kantor MD, Subha V. Raman MD, Lisa Hunegs MSW MPH, Joanne Odenkirchen MPH, Kristy Miller MPH, Petra Kaufmann MD MSC. Movement Disorders; Article first published online: 12 DEC 2012 | DOI: 10.1002/mds.25201.

Keywords: cerebellum, dorsal root ganglion, mitochondrion, clinical measure, NINDS Common Data Elements.