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.

OPEN ACCESS: FULL TEXT PDF

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.