Charles A. Galea, Aamira Huq, Paul J. Lockhart, Geneieve Tai, Louise A. Corben, Eppie M. Yiu, Lyle C. Gurrin, David R. Lynch, Sarah Gelbard, Alexandra Durr, Francoise Pousset, Michael Parkinson, Robyn Labrum, Paola Giunti, Susan L. Perlman, Martin B. Delatycki and Marguerite V. Evans-Galea; Annals of Neurology Accepted manuscript online: 24 DEC 2015 DOI: 10.1002/ana.24595
This integrated analysis of categorized frataxin mutations and their correlation with clinical outcome provides a definitive resource for investigating disease pathogenesis in FRDA
Saturday, December 26, 2015
Thursday, December 24, 2015
Diagnosis and management of hypertrophic cardiomyopathy
Antonis Pantazis MD, Annina S Vischer MD, Maria Carrillo Perez-Tome MD and Silvia Castelletti MD; Echo Res Pract. 2015 Mar 1;2(1):R45-53. doi: 10.1530/ERP-15-0007. Epub 2015 Mar 11.
OPEN ACCESS
Friedreich Ataxia: Histological features explain that the hypertrophy derives from a striking proliferation of mitochondria within the cardiomyocytes, and a marked loss of contractile fibres. The cardiac involvement is high (more than 60% of patient affected) and usually asymptomatic.
OPEN ACCESS
Friedreich Ataxia: Histological features explain that the hypertrophy derives from a striking proliferation of mitochondria within the cardiomyocytes, and a marked loss of contractile fibres. The cardiac involvement is high (more than 60% of patient affected) and usually asymptomatic.
European medical research escapes stifling privacy laws
Alison Abbott. Nature, Breaking News. doi:10.1038/nature.2015.19054 16 December 2015
Proposed legislation had threatened the use of genomic and clinical data in medical studies.
Proposed legislation had threatened the use of genomic and clinical data in medical studies.
Wednesday, December 23, 2015
Longitudinal magnetic resonance imaging study shows progressive pyramidal and callosal damage in Friedreich's ataxia
Thiago J.R. Rezende Msc, Cynthia B. Silva MD, PhD, Clarissa L. Yassuda MD, PhD, Brunno M. Campos Msc, Anelyssa D'Abreu MD, PhD, Fernando Cendes MD, PhD, Iscia Lopes-Cendes MD PhD andMarcondes C. França Jr. MD, PhD; Mov Disord. 2015 Dec 21. doi: 10.1002/mds.26436. [Epub ahead of print]
Patients with Friedreich’s ataxia present more widespread gray and white matter damage than previously reported, including not only infratentorial areas, but also supratentorial structures.
Patients with Friedreich’s ataxia present more widespread gray and white matter damage than previously reported, including not only infratentorial areas, but also supratentorial structures.
Tuesday, December 22, 2015
The novel triterpenoid RTA 408 protects human retinal pigment epithelial cells against H2O2-induced cell injury via NF-E2-related factor 2 (Nrf2) activation
Xiaobin Liu, Keith Ward, Christy Xavier, Jamieson Jann, Abbot F. Clark, Iok-Hou Pang, Hongli Wu, Redox Biology, Available online 19 December 2015, ISSN 2213-2317, doi:10.1016/j.redox.2015.12.005.
Study about RTA 408 for degenerative eye diseases. Currently there is an ongoing clinical trial for the FA. Although the work is focused on age-related macular degeneration, includes important insights on the action mechanism of RTA 408.
RTA 408 represents a novel class of therapeutics that has the potential to increase Nrf2 expression and thereby increase expression of antioxidant enzymes. RTA 408 is a member of the synthetic oleanane triterpenoid compounds. It is currently under clinical investigation for the prevention of cataract surgery-induced loss of corneal endothelial cells, prevention of radiation-induced dermatitis in breast cancer patients undergoing radiotherapy, treatment of solid tumors including melanoma and lung cancer, and treatment of Friedreich’s Ataxia and mitochondrial myopathies. The present study investigates the connection between RTA 408 and the Nrf2 pathway as well as multiple antioxidant enzymes in RPE cells. This will help determine whether RTA 408 may serve as a potent therapy for AMD and other degenerative eye diseases.
Study about RTA 408 for degenerative eye diseases. Currently there is an ongoing clinical trial for the FA. Although the work is focused on age-related macular degeneration, includes important insights on the action mechanism of RTA 408.
RTA 408 represents a novel class of therapeutics that has the potential to increase Nrf2 expression and thereby increase expression of antioxidant enzymes. RTA 408 is a member of the synthetic oleanane triterpenoid compounds. It is currently under clinical investigation for the prevention of cataract surgery-induced loss of corneal endothelial cells, prevention of radiation-induced dermatitis in breast cancer patients undergoing radiotherapy, treatment of solid tumors including melanoma and lung cancer, and treatment of Friedreich’s Ataxia and mitochondrial myopathies. The present study investigates the connection between RTA 408 and the Nrf2 pathway as well as multiple antioxidant enzymes in RPE cells. This will help determine whether RTA 408 may serve as a potent therapy for AMD and other degenerative eye diseases.
Monday, December 21, 2015
Functional and gait assessment in children with Friedreich ataxia: Comparison of quantitative and functional evaluation
G. Vasco, M. Petrarca, S. Gazzellini, M.L. Lispi, G. Della Bella, S. Carniel, M. Zazza, E. Castelli, E. Bertini; Gait & Posture, Volume 42, Supplement 3, December 2015, Pages S45-S46, ISSN 0966-6362, doi: 10.1016/j.gaitpost.2015.03.083.
The spatial and temporal parameters revealed to be the most sensitive quantitative indicators and have a good correlation with SARA.
The spatial and temporal parameters revealed to be the most sensitive quantitative indicators and have a good correlation with SARA.
Sunday, December 20, 2015
Otoneurological findings prevalent in hereditary ataxias
Bianca Simone Zeigelboim, Helio Afonso Ghizoni Teive, Geslaine Santos, Maria Izabel Severiano, Vinicius Ribas Fonseca, João Henrique Faryniuk, Parkinsonism & Related Disorders, Volume 22, Supplement 2, January 2016, Page e152, ISSN 1353-8020, doi:10.1016/j.parkreldis.2015.10.356.
A retrospective cross-sectional study was conducted with 19 Friedreich's ataxia. The most evident neuro-otological symptoms were dizziness, lack of coordination of movement, and imbalance when walking.
A retrospective cross-sectional study was conducted with 19 Friedreich's ataxia. The most evident neuro-otological symptoms were dizziness, lack of coordination of movement, and imbalance when walking.
Saturday, December 19, 2015
Vitamin E therapy beyond cancer: tocopherol versus tocotrienol
Hong Yong Peh, W.S. Daniel Tan, Wupeng Liao, W.S. Fred Wong, Pharmacology & Therapeutics, Available online 17 December 2015, ISSN 0163-7258, doi:10.1016/j.pharmthera.2015.12.003.
Modifications to tocotrienols were performed as well: Vatiquinone (EPI-743), structurally similar to α-tocotrienol metabolite α-tocotrienol quinone, was developed for the treatment of Leigh syndrome and other inherited mitochondrial diseases by Edison Pharmaceuticals Inc. Currently, EPI-743 was approved by FDA (United States of America Food and Drug Administration) in July 2014 for the treatment of Leigh syndrome and an ongoing Phase-IIb clinical trial for Friedreich’s ataxia
Modifications to tocotrienols were performed as well: Vatiquinone (EPI-743), structurally similar to α-tocotrienol metabolite α-tocotrienol quinone, was developed for the treatment of Leigh syndrome and other inherited mitochondrial diseases by Edison Pharmaceuticals Inc. Currently, EPI-743 was approved by FDA (United States of America Food and Drug Administration) in July 2014 for the treatment of Leigh syndrome and an ongoing Phase-IIb clinical trial for Friedreich’s ataxia
Thursday, December 17, 2015
[Memantine for optic nerve atrophy in Friedreich's Ataxia]- Memantin bei Optikusatrophie in Friedreich-Ataxie
S. Peter , K. Manousaridis, S. Boesch, S. Mennel; Der Ophthalmologe pp 1-4, [Article in German] DOI 10.1007/s00347-015-0191-7
Despite the limitations of this single and time limited case observational study, memantine should be discussed as an option for treatment of acute optic nerve atrophy in Friedreich’s ataxia.
Despite the limitations of this single and time limited case observational study, memantine should be discussed as an option for treatment of acute optic nerve atrophy in Friedreich’s ataxia.
Wednesday, December 16, 2015
Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin
Joseph F. Nabhan, Renea L. Gooch, Eugene L. Piatnitski Chekler, Betsy Pierce & Christine E. Bulawa; (Nature) Scientific Reports 5, Article number: 18251 (2015) doi:10.1038/srep18251
OPEN
Interestingly, a number of treatments caused a change in total amount of FXN protein, without an effect on mature FXN. Our results imply that regulation of FXN protein levels is complex and that total amounts can be modulated chemically and genetically without altering the absolute amount of mature FXN protein.
OPEN
Interestingly, a number of treatments caused a change in total amount of FXN protein, without an effect on mature FXN. Our results imply that regulation of FXN protein levels is complex and that total amounts can be modulated chemically and genetically without altering the absolute amount of mature FXN protein.
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