Medical management of hereditary optic neuropathies

Medical management of hereditary optic neuropathies. La Morgia C, Carbonelli M, Barboni P, Sadun AA and Carelli V; Front. Neurol. 5:141. doi: 10.3389/fneur.2014.00141

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Hypertrophic cardiomyopathy: a heart in need of an energy bar?

Hypertrophic cardiomyopathy: a heart in need of an energy bar?. Styliani Vakrou and M Roselle Abraham; Front. Physiol. 5:309. doi: 10.3389/fphys.2014.00309

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Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice

Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice. Jonathan Jones, Alicia Estirado, Carolina Redondo, Jesus Pacheco-Torres, Maria-Salomé Sirerol-Piquer, José Manuel Garcia-Verdugo and Salvador Martinez; Molecular Therapy accepted article preview 29 July 2014; doi: 10.1038/mt.2014.143

Bone marrow mesenchymal stem cell transplantation, both autologous and allogeneic, is a feasible therapeutic option to consider in delaying the neurodegeneration observed in the dorsal root ganglia of Friedreich´s ataxia patients.

Hierarchical Virtual Screening Approaches in Small Molecule Drug Discovery

Hierarchical Virtual Screening Approaches in Small Molecule Drug Discovery. Ashutosh Kumar, Kam Y.J. Zhang,Methods, Available online 27 July 2014, ISSN 1046-2023, http://dx.doi.org/10.1016/j.ymeth.2014.07.007.

Several virtual screening studies are discussed to demonstrate the successful application of hierarchical virtual screening in small molecule drug discovery. Scaffold searches identified a series of compounds able to disrupt frataxin/ubiquitin PPI, resulted in the identification of one compound that prevented frataxin ubiquitination and degradation.

Clinical and Genetic Study of Friedreich’s Ataxia and Ataxia with Vitamin E Deficiency in 44 Moroccan Families

Clinical and Genetic Study of Friedreich’s Ataxia and Ataxia with Vitamin E Deficiency in 44 Moroccan Families. Fatima Imounan, Naima Bouslam, El Hachmia Aitbenhaddou1, Wafa Regragui1, Ahmed Bouhouche, Ali Benomar, Mohammed Yahyaoui; World Journal of Neuroscience, 2014, 4, 299-305, Published Online August 2014 in SciRes. http://www.scirp.org/journal/wjns
http://dx.doi.org/10.4236/wjns.2014.44033

Autosomal Recessive Cerebellar Ataxias

Autosomal Recessive Cerebellar Ataxias; Dr. Anne Noreau, Dr. Nicolas Dupré, Dr. Jean-Pierre Bouchard, Dr. Patrick A. Dion, Dr. Guy A. Rouleau; Handbook of the Cerebellum and Cerebellar Disorders, 2013, pp 2177-2191

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Prise en charge pluridisciplinaire des déformations du tronc chez l’enfant et l’adolescent polyhandicapé

Prise en charge pluridisciplinaire des déformations du tronc chez l’enfant et l’adolescent polyhandicapé; R. Vialle, A. Dubory, H. Bouloussa, P. Mary, S. Zakine; Archives de Pédiatrie, Volume 21, Issue 5, Supplement 1, May 2014, Pages 149-150, ISSN 0929-693X, http://dx.doi.org/10.1016/S0929-693X(14)71505-2.

Prévalence des scolioses dans l'Ataxie de Friedreich 80%. L’amélioration des techniques chirurgicales, mais d’abord et avant tout réanimatoires, pneumologiques, cardiologiques et anesthésiques, permet de proposer des solutions chirurgicales plus ou moins complexes à un très grand nombre de patients, y compris les plus fragiles.

New results ease previous concerns that gene-editing techniques could add unwanted mutations to stem cells

New results ease previous concerns that gene-editing techniques could add unwanted mutations to stem cells. Medicalnewstoday, Sunday 13 July 2014

The iPSC could be much more than a tool for research, wait and see ...

The researcher says: "doesn't necessarily mean that there are no inherent risks to using stem cells with edited genes, but that the editing process doesn't make the stem cells any less safe."

AVANCES EN EL TRATAMIENTO DE LAS ATAXIAS CRÓNICAS-Therapeutic developments in chronic ataxias

AVANCES EN EL TRATAMIENTO DE LAS ATAXIAS CRÓNICAS-Therapeutic developments in chronic ataxias. Buompadre MC.; Medicina (B Aires). 2013;73 Suppl 1:49-54.

Palabras clave: ataxia cerebelosa, tratamiento, agentes antioxidantes, corticoides, vitamina

KEYWORDS: antioxidant agents; cerebellar ataxia; corticosteroid; treatment; vitamin

[Article in Spanish]

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Genes and Genetic Testing in Hereditary Ataxias

Genes and Genetic Testing in Hereditary Ataxias. Sandford, E.; Burmeister, M.; Genes. 2014; 5(3):586-603.

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Therapeutic approaches for the treatment of Friedreich’s ataxia

Therapeutic approaches for the treatment of Friedreich’s ataxia, Cassandra J Strawser, Kimberly A Schadt, David R Lynch, 2014, Ahead of Print : Pages 1-9 (doi: 10.1586/14737175.2014.939173)

Keywords: coenzyme Q10, deferiprone, EPI-743, EPO, Friedreich ataxia, gene therapy, idebenone, mitochondrial dysfunction, tat-frataxin

Sleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialist

Sleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialist. Review article, Natan Gadoth and imageArie Oksenberg, Front. Neurol., 17 July 2014 | doi: 10.3389/fneur.2014.00133

The authors suggest that snoring and obstructive sleep apnea (OSA) in FRDA is related to disease duration and the presence of reduced respiratory muscle strength in conjunction with scoliosis and poor posture.

Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia

Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia. Sarah C. Milne, Darren R. Hocking, Nellie Georgiou-Karistianis, Anna Murphy, Martin B. Delatycki, Louise A. Corben; The Cerebellum July 2014

Spatiotemporal gait parameters are a sensitive measure of gait decline in individuals with FRDA and should be considered for inclusion in intervention studies whilst participants are still ambulant.

Coexistence of tuberous sclerosis and Friedreich ataxia

Coexistence of tuberous sclerosis and Friedreich ataxia. Melanie Walker, Ali Samii, Thomas Bird; Journal of the Neurological Sciences Volume 221, Issue 1 , Pages 91-93, 15 June 2004

"The occurrence of two mutations on the same chromosome is probably coincidental but emphasizes the importance of searching for additional genetic causes when the phenotype does not fit with an established genetic diagnosis."

Engineering synthetic TALE and CRISPR/Cas9 transcription factors for regulating gene expression

Engineering synthetic TALE and CRISPR/Cas9 transcription factors for regulating gene expression. Ami M. Kabadi, Charles A. Gersbach, Available online 8 July 2014, ISSN 1046-2023, http://dx.doi.org/10.1016/j.ymeth.2014.06.014.
(http://www.sciencedirect.com/science/article/pii/S1046202314002369)

There is a long way to go, perhaps too long, but opens up a world of opportunity to cure genetic diseases.

NIH Grant: THE ROLE OF ACETYLATION IN THE REGULATION IRON-SULFUR CLUSTER BIOGENESIS AND MITO

NIH Grant: THE ROLE OF ACETYLATION IN THE REGULATION IRON-SULFUR CLUSTER BIOGENESIS AND MITO.

Source: NIH Grant #8721002 (DUKE UNIVERSITY, DURHAM, UNITED STATES)
Organisation: DUKE UNIVERSITY, DURHAM, UNITED STATES

Functional Characterization of Friedreich Ataxia iPS-Derived Neuronal Progenitors and Their Integration in the Adult Brain

Functional Characterization of Friedreich Ataxia iPS-Derived Neuronal Progenitors and Their Integration in the Adult Brain . Matthew J. Bird, Karina Needham, Ann E. Frazier, Jorien van Rooijen, Jessie Leung, Shelley Hough, Mark Denham, Matthew E. Thornton, Clare L. Parish, Bryony A. Nayagam, Martin Pera, David R. Thorburn, Lachlan H. Thompson, Mirella Dottori. PLoS ONE 9(7): e101718. doi:10.1371/journal.pone.0101718, Published: July 7, 2014

FA iPS cells are highly valuable for establishing a human cellular model system of FRDA that can be further utilised to accelerate development of FRDA treatments.

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Patent alert: Treatment Of FrataxinRelated Diseases By Inhibition Of Natural Antisense Transcript To Fxn

Patend Alert: Treatment Of FrataxinRelated Diseases By Inhibition Of Natural Antisense Transcript To Fxn. Inventor(s): COLLARD JOSEPH [US]; SHERMAN OLGA KHORKOVA [US]; Applicant(s): CURNA INC [US] +

The role of frataxin in fission yeast iron metabolism: Implications for Friedreich’s ataxia

The role of frataxin in fission yeast iron metabolism: Implications for Friedreich’s ataxia. Yu Wang, Yiwei Wang, S. Marcus, L.S. Busenlehner; Biochimica et Biophysica Acta (BBA) - General Subjects, Available online 3 July 2014, ISSN 0304-4165, http://dx.doi.org/10.1016/j.bbagen.2014.06.017

This paper provide evidence that suggests dysregulated Fe-S cluster biogenesis is a primary effect of both frataxin overexpression and deficiency as in Friedreich’s ataxia, it also suggests that therapies to increase transcription and translation of endogenous frataxin or to replace exogenous frataxin via gene therapy, must tightly control protein expression since high levels of frataxin are detrimental to the cell in a manner similar to its deficiency.

Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND)

Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND). Sponsor: University of South Florida; ClinicalTrials.gov identifier: NCT02179333, First received: June 27, 2014

Subjects with Ataxia, Patients with a diagnosis of ataxia (Friedreich's ataxia or Spinocerebellar ataxia type 1-30) aged 18-80 years old will be recruited for the study.

Biomarkers for Mitochondrial Diseases Emerging

Biomarkers for Mitochondrial Diseases Emergin,  CHOP, Friedreich’s Ataxia Center of Excellence, by Research Communications, Jul 01 2014

Nuevas aproximaciones terapéticas para el tratamiento de la Ataxia de Friedreich: HBSP y BDNF

Nuevas aproximaciones terapéticas para el tratamiento de la Ataxia de Friedreich: HBSP y BDNF; Autor (es): Katsu Jiménez, Yurika María; Director (es): Díaz Nido, Javier (dir.) Tesis doctoral inédita, leída en Universidad Autónoma de Madrid, Facultad de Ciencias, Departamento de Biología Molecular. Fecha de lectura: 15/07/2013

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