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