USF researchers study medication that may help patients with incurable neuro-muscular disorder

USF researchers study medication that may help patients with incurable neuro-muscular disorder. abc ACTION NEWS; Thursday, December 20, 2012

“Currently there are no treatments or cures for Friedreich's Ataxia, but there's a possibility for a new drug that USF will be spearheading in the next month called EPI – 743"

Kinetics of the Triplex-Duplex Transition in DNA

Kinetics of the Triplex-Duplex Transition in DNA. Il-Buem Lee, Seok-Cheol Hong, Nam-Kyung Lee, Albert Johner; Biophysical Journal, Volume 103, Issue 12, 19 December 2012, Pages 2492-2501. http://dx.doi.org/10.1016/j.bpj.2012.10.029

Keywords: triplex folding/unfolding, metastable states.

Clarification: Conditions like FA involve triplex DNA structures that arise from tri nucleotide repeat expansions.

Heart Mitochondria: Receivers and Transmitters of Signals

Heart Mitochondria: Receivers and Transmitters of Signals. José Marín-García M.D.;
Mitochondria and Their Role in Cardiovascular Disease
2013, pp 157-181

Keywords: ATP, heart mitochondria, regulatory and signaling events, heart failure (HF), myocardial ischemia and reperfusion injury (IRI), hypoxia, oxidative stress (OS), hormonal and cytokine stimuli, interorganelle communication, hypertrophic growth, cell death, interrelated signaling pathways.

Alkylaminoquinones as Multifunctional Radical Quenchers

Alkylaminoquinones as Multifunctional Radical Quenchers. The Biodesign Institute Arizona State University.

Researchers at the Biodesign Institute of Arizona State University have developed novel
multifunctional radical quenchers (MRQs) for the treatment of mitochondrial disorders
Therapeutic candidates for mitochondrial diseases such as Friedreich’s ataxia

Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer

Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer.ClinicalTrials.gov Identifier: NCT01751503; First received: December 11, 2012

Iva Hauptmannova, Royal National Orthopaedic Hospital NHS Trust, London, Middlesex, United Kingdom

Foot drop deformity is a life limiting condition characterized by loss of ankle dorsiflexion and eversion. Main condition leading to drop foot condition include irrecoverable muscle and nerve injuries, poliomyelitis, drug poisoning, strokes, cerebral palsy, Charcot - Marie - Tooth disease, meningomyelocele, club foot, Friedreich's ataxia and Leprosy.

High-performance neuroprosthetic control by an individual with tetraplegia

High-performance neuroprosthetic control by an individual with tetraplegia. Jennifer L Collinger PhD, Brian Wodlinger PhD, John E Downey BS, Wei Wang PhD, Elizabeth C Tyler-Kabara MD, Douglas J Weber PhD, Angus JC McMorland PhD, Meel Velliste PhD, Prof Michael L Boninger MD, Prof Andrew B Schwartz PhD. The Lancet, Early Online Publication, 17 December 2012, doi:10.1016/S0140-6736(12)61816-9


Paralyzed Woman's Mind Controls Robotic Arm. Written by Sarah Glynn, Medical News Today, Article Date: 17 Dec 2012.

A paralyzed woman struggling with Spinocerebellar degeneration has been able to control a robotic prosthetic hand using her thoughts.

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.