Review on Molecular Diagnostic Techniques in Friedreich’s Ataxia

Review on Molecular Diagnostic Techniques in Friedreich’s Ataxia Pravin D. Potdar and Aarthy Raghu; Annual Review & Research in Biology, ISSN: 2231-4776,Vol.: 3, Issue.: 4 (October-December)

Keywords: Friedreich’s ataxia; frataxin; GAA repeats; molecular diagnostics; triplet-repeat primed PCR; real time PCR.

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Multi-Copper Oxidases and Human Iron Metabolism

Multi-Copper Oxidases and Human Iron Metabolism. Vashchenko, G.; MacGillivray, R.T.A.; Nutrients 2013, 5, 2289-2313.

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Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.Matern D, Oglesbee D, Tortorelli S.; Dev Disabil Res Rev. 2013 Jun;17(3):247-253. doi: 10.1002/ddrr.1117.

Keywords: Newborn screening (NBS), public health program, 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, Friedreich ataxia.

Final Study Record Detail: Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia

Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia. www.clinicaltrials.gov, A service of the U.S. National Institutes of Health.

Study Design:
Allocation: Randomized; Endpoint Classification: Efficacy Study; Intervention Model: Parallel Assignment; Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor); Primary Purpose: Supportive Care

Due to small sample size and considering there are no specific studies in this population with EGb761; calculation with the use of a statistical hypothesis was not possible. Primary efficacy analyses performed on the mITT population and analysis of safety performed on the safety population.

Modelling the endothelial blood-CNS barriers: a method for the production of robust in vitro models of the rat blood--brain barrier and blood-spinal cord barrier

Modelling the endothelial blood-CNS barriers: a method for the production of robust in vitro models of the rat blood--brain barrier and blood-spinal cord barrier. P Marc Watson, Judy C Paterson, George Thom, Ulrika Ginman, Stefan Lundquist and Carl I Webster, BMC Neuroscience 2013, 14:59 doi:10.1186/1471-2202-14-59 Published: 18 June 2013

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"Interesting in vitro model to test if drugs can reach neurons, in Friedreich's ataxia it's a major handicap reach the neurons to improve the neurological symptoms"

Osteopenia and osteoporosis in Friedreich's ataxia

Osteopenia and osteoporosis in Friedreich's ataxia. Nachbauer, W., Eigentler, A., Gasser, R., Poewe, W., Boesch, S.; Movement Disorders 2013;28 Suppl 1 :698

Keywords: osteoporosis, osteopenia, Friedreich ataxia (FRDA), demographic, clinical values, increased risk of fractures, osteodensitometry, wheelchair-bound patients.

Friedreich ataxia: metal dysmetabolism in dorsal root ganglia

Friedreich ataxia: metal dysmetabolism in dorsal root ganglia. Arnulf H Koeppen, Erik C Kuntzsch, Sarah T Bjork, R Liane Ramirez, Joseph E Mazurkiewicz and Paul J Feustel. Acta Neuropathologica Communications 2013, 1:26 doi:10.1186/2051-5960-1-26
Published: 19 June 2013

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Mitochondrial Diseases of the Brain

Mitochondrial Diseases of the Brain. Rajnish K. Chaturvedi, M. Flint Beal. Free Radical Biology and Medicine, Volume 63, October 2013, Pages 1-29. http://dx.doi.org/10.1016/j.freeradbiomed.2013.03.018

Keywords: Parkinson’s disease, Alzheimer’s disease, Huntington’s disease, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth, Friedreich’s ataxia, Neurodegenerative diseases, Mitochondrial dysfunction, Creatine, Co-Q10, PGC-1α, Sirtuins, Free radicals.

Analysis of the visual system in Friedreich ataxia.

Analysis of the visual system in Friedreich ataxia. Seyer LA, Galetta K, Wilson J, Sakai R, Perlman S, Mathews K, Wilmot GR, Gomez CM, Ravina B, Zesiewicz T, Bushara KO, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Balcer LJ, Lynch DR. Journal of neurology : 2013 Jun 18 pg.

Keywords: optical coherence tomography (OCT), contrast letter acuity, GAA repeat length, highly correlated with neurological outcomes, markers of neurologic progression in FRDA.

The neuroprotective and neurorescue effects of carbamylated erythropoietin Fc fusion protein (CEPO-Fc) in a rat model of Parkinson’s disease

The neuroprotective and neurorescue effects of carbamylated erythropoietin Fc fusion protein (CEPO-Fc) in a rat model of Parkinson’s disease; Judith Thomas Tayra, Masahiro Kameda, Takao Yasuhara, Takashi Agari, Tomohito Kadota, Feifei Wang, Yoichiro Kikuchi, Hanbai Liang, Aiko Shinko, Takaaki Wakamori, Brigitta Vcelar,Brain Research, Volume 1502, 28 March 2013, Pages 55–70. http://dx.doi.org/10.1016/j.brainres.2013.01.042

Keywords: Carbamylated erythropoietin, Dopamine, Neuroprotection, Neurorescue, Parkinson’s disease

Brain-Computer Interfaces Make New Tasks As Simple As Waving A Hand

Brain-Computer Interfaces Make New Tasks As Simple As Waving A Hand. University of Washington. (2013, June 14). "Brain-Computer Interfaces Make New Tasks As Simple As Waving A Hand." Medical News Today

This technology could improve communication and daily life for a person who is paralyzed or has lost the ability to speak from a stroke or neurodegenerative disease.

Friedreich’s and other hereditary ataxias in Greece: an 18-year perspective

Friedreich’s and other hereditary ataxias in Greece: an 18-year perspective Georgios Koutsis, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, Marios Panas. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

Genetic delineation of early onset cerebellar ataxia phenotypes in India through next generation sequencing

Genetic delineation of early onset cerebellar ataxia phenotypes in India through next generation sequencing Mohammed Faruq, Ankita Narang, Renu Kumari, Achal Kumar Sriavstava, Debasis Dash, Mitali Mukerji. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

Addressing Mitochondrial Function in a mouse model of Friedreich’s Ataxia (FRDA)

Addressing Mitochondrial Function in a mouse model of Friedreich’s Ataxia (FRDA) Rosella Abeti, Michael Parkinson, Chiranjeevi Sandi, Mark Pook, Andrey AY Abramov and Paola Giunti. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

Autosomal recessive cerebellar ataxias : cinical and genetic study of 188 patients

Autosomal recessive cerebellar ataxias : cinical and genetic study of 188 patients Lamia Ali-Pacha, W Hamza S Nouioua, C Lagier-Tourenne, Traki Benhassine, S Assami, Michel Koenig, Meriem Tazir. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

Retrospectively and prospectively Study of 188 cases belonging to 117 families coming from different regions of Algeria, between 2001 à 2012, patients suspected of Autosomal recessive cerebellar ataxias. The molecular diagnosis could be established in 67% of Autosomal recessive cerebellar ataxias patients (126 patients belonging to 75 families): 52 patients (32 families) were affected with Friedreich ataxia, it was the most frequent entity, as found in the majority of studies, followed by AOA2 and AVED.

Burden of Friedreich’s Ataxia to the patients and healthcare systems in the United States and Canada

Burden of Friedreich’s Ataxia to the patients and healthcare systems in the United States and Canada. Polek Barbara, Andrews William T, Roach MT, Ehling Manfred, Salek Sam; Front. Pharmacol., 22 May 2013 | doi: 10.3389/fphar.2013.00066

Conclusion: The variety of healthcare measures addressing the broad range of symptoms of FRDA, and the increasing use of paid home care as disease progresses made total US healthcare costs of FRDA exceed the costs of US adults with two and more chronic conditions. Therefore, measures delaying disease progression will allow patients to maintain their independence longer and may reduce costs to the healthcare system. Novel measures to address dysarthria and to ensure access to them should be further investigated. The higher than average private funding ratio in Canada was due to the relatively high cost of the pharmacological treatment of FRDA.


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Therapeutic strategies in Friedreich's Ataxia

Therapeutic strategies in Friedreich's Ataxia. Timothy E. Richardson, Heather N. Kelly, Amanda E. Yu, James W. Simpkins.; Brain Research, Volume 1514, 13 June 2013, Pages 91-97; http://dx.doi.org/10.1016/j.brainres.2013.04.005

Keywords: Friedreich's Ataxia, Therapeutic Strategies, Frataxin, 17β-estradiol, Methylene blue