The American Journal of Cardiology, , Available online 10 November 2011, doi:10.1016/j.amjcard.2011.09.025
Sean R. Regner, Sarah J. Lagedrost, Ted Plappert, Erin K. Paulsen, Lisa S. Friedman, Madeline L. Snyder, Susan L. Perlman, Katherine D. Mathews, George R. Wilmot, Kimberly A. Schadt, Martin St. John Sutton, David R. Lynch
Keywords: Friedreich ataxia (FA), cardiomyopathy, echocardiograms, disease duration, subject age, age of onset, functional disability score, GAA repeat length, systolic dysfunction, diastolic dysfunction, hypertrophy.
Friday, November 11, 2011
Annual change in Friedreich's ataxia evaluated by the scale for the assessment and rating of ataxia (SARA) is independent of disease severity
Movement Disorders. doi: 10.1002/mds.23879, Article first published online: 10 NOV 2011
Marelli, C., Figoni, J., Charles, P., Anheim, M., Tchikviladze, M., Vincitorio, C.-M., du Montcel, S. T., Brice, A., Golmard, J. L. and Dürr, A.
"In future therapeutic trials no patient stratification is globally required."
Keywords: Friedreich's ataxia, SARA, clinical rating scale, disease progression
Marelli, C., Figoni, J., Charles, P., Anheim, M., Tchikviladze, M., Vincitorio, C.-M., du Montcel, S. T., Brice, A., Golmard, J. L. and Dürr, A.
"In future therapeutic trials no patient stratification is globally required."
Keywords: Friedreich's ataxia, SARA, clinical rating scale, disease progression
Thursday, November 10, 2011
MR spectroscopy and atrophy in Gluten, Friedreich’s and SCA6 ataxias
Acta Neurologica Scandinavica, Article first published online: 10 NOV 2011 | DOI: 10.1111/j.1600-0404.2011.01620.x
M. Hadjivassiliou, L. I. Wallis, N. Hoggard, R. A. Grünewald, P. D. Griffiths and I. D. Wilkinson
Keywords: movement disorders; neuroimaging; SCA6; gluten ataxia; Friedreich’s ataxia; MR spectroscopy
M. Hadjivassiliou, L. I. Wallis, N. Hoggard, R. A. Grünewald, P. D. Griffiths and I. D. Wilkinson
Keywords: movement disorders; neuroimaging; SCA6; gluten ataxia; Friedreich’s ataxia; MR spectroscopy
Wednesday, November 9, 2011
Initial Experience in the Treatment of Inherited Mitochondrial Disease with EPI-743
Molecular Genetics and Metabolism, In Press, Accepted Manuscript, doi:10.1016/j.ymgme.2011.10.009
Gregory M. Enns a, Stephen L. Kinsman b, Susan L. Perlman c, Kenneth M. Spicer d, Jose E. Abdenur e, Bruce H. Cohen f, Akiko Amagata g, Adam Barnes g, Viktoria Kheifets g, William D. Shrader g, Martin Thoolen g, Francis Blankenberg h, Guy Miller g i.
a Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94305–5208, USA
b Division of Neurosciences, Medical University of South Carolina, Charleston, SC 29425, USA
c Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
d Department of Radiology and Radiological Science, Medical University of South Carolina, Charleston, SC 29425, USA
e Department of Pediatrics, Division of Metabolic Disorders, CHOC Children's Hospital, Orange County, CA 92868, USA
f Department of Neurology, NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, OH 44308, USA
g Edison Pharmaceuticals, 350 North Bernardo Avenue, Mountain View, CA 94043, USA
h Department of Radiology, Division of Pediatric Radiology, Lucile Packard Children's Hospital, Stanford, CA 94305, USA
i Adjunct Clinical Instructor, Department of Anesthesiology, Critical Care Medicine, Stanford University, Stanford, CA 94305, USA
"Data obtained herein suggest that EPI-743 may represent a new drug for the treatment of inherited mitochondrial respiratory chain disorders"
KEYWORDS: Mitochondrial disease; α-tocotrienol quinone; Leigh syndrome; polymerase γ deficiency; MELAS; mitochondrial DNA deletion syndrome, Friedreich ataxia,
Gregory M. Enns a, Stephen L. Kinsman b, Susan L. Perlman c, Kenneth M. Spicer d, Jose E. Abdenur e, Bruce H. Cohen f, Akiko Amagata g, Adam Barnes g, Viktoria Kheifets g, William D. Shrader g, Martin Thoolen g, Francis Blankenberg h, Guy Miller g i.
a Department of Pediatrics, Division of Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA 94305–5208, USA
b Division of Neurosciences, Medical University of South Carolina, Charleston, SC 29425, USA
c Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
d Department of Radiology and Radiological Science, Medical University of South Carolina, Charleston, SC 29425, USA
e Department of Pediatrics, Division of Metabolic Disorders, CHOC Children's Hospital, Orange County, CA 92868, USA
f Department of Neurology, NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, OH 44308, USA
g Edison Pharmaceuticals, 350 North Bernardo Avenue, Mountain View, CA 94043, USA
h Department of Radiology, Division of Pediatric Radiology, Lucile Packard Children's Hospital, Stanford, CA 94305, USA
i Adjunct Clinical Instructor, Department of Anesthesiology, Critical Care Medicine, Stanford University, Stanford, CA 94305, USA
"Data obtained herein suggest that EPI-743 may represent a new drug for the treatment of inherited mitochondrial respiratory chain disorders"
KEYWORDS: Mitochondrial disease; α-tocotrienol quinone; Leigh syndrome; polymerase γ deficiency; MELAS; mitochondrial DNA deletion syndrome, Friedreich ataxia,
Pathophysiology of Friedreich's Ataxia Includes Alterations of Thiol Antioxidants, and Screening Based On This Principle Identifies Small Molecule Drugs With Antioxidant and Frataxin Induction Mechanisms
Free Radical Biology and Medicine, Volume 51, Supplement, 1 November 2011, Pages S85
SFRBM's 18th Annual Meeting: Program and abstracts. doi:10.1016/j.freeradbiomed.2011.10.395
Gino Cortopassi, Robert Schoenfeld, Yuxi Shan, Sunil Sahdeo
University of California, Davis
No abstrac
You can find a similar paper of the same authors in the Strasbourg FARA conference summary.
http://www.curefa.org/_pdf/4thInternationalFAConferenceAbstracts.pdf
SFRBM's 18th Annual Meeting: Program and abstracts. doi:10.1016/j.freeradbiomed.2011.10.395
Gino Cortopassi, Robert Schoenfeld, Yuxi Shan, Sunil Sahdeo
University of California, Davis
No abstrac
You can find a similar paper of the same authors in the Strasbourg FARA conference summary.
http://www.curefa.org/_pdf/4thInternationalFAConferenceAbstracts.pdf
Tuesday, November 8, 2011
Monosodium Luminol could be useful Friedreich’s Ataxia.
Bach Pharma, Inc. and Destum Partners, Inc.
NORTH ANDOVER, Massachusetts – October 31, 2011,
"Approvals are in place to annually treat over a half million cancer patients in the CIS countries alone, a very attractive market opportunity especially for an Eastern European partner. In CNS related diseases, GVT® is the subject of a phase I/II clinical study to treat ataxia-telangiectasia (A-T), a rare childhood genetic disorder, which currently has no effective treatment and leads to early complications of aging and death among its young patients. This study demonstrates strong pre-clinical support for its use in other CNS and/or Orphan diseases such as Parkinson’s, Amyotrophic Lateral Sclerosis (ALS) and Friedreich’s Ataxia."
"The Company intends to focus its clinical efforts through sponsored research!!."
NORTH ANDOVER, Massachusetts – October 31, 2011,
"Approvals are in place to annually treat over a half million cancer patients in the CIS countries alone, a very attractive market opportunity especially for an Eastern European partner. In CNS related diseases, GVT® is the subject of a phase I/II clinical study to treat ataxia-telangiectasia (A-T), a rare childhood genetic disorder, which currently has no effective treatment and leads to early complications of aging and death among its young patients. This study demonstrates strong pre-clinical support for its use in other CNS and/or Orphan diseases such as Parkinson’s, Amyotrophic Lateral Sclerosis (ALS) and Friedreich’s Ataxia."
"The Company intends to focus its clinical efforts through sponsored research!!."
Sunday, November 6, 2011
Stem cell. Transplant More Effective When Stem Cells Reprogrammed To A More Basic Form
Wiley-Blackwell. (2011, November 6). "Transplant More Effective When Stem Cells Reprogrammed To A More Basic Form." Medical News Today.
The results confirm that de-differentiation is a workable technique for reengineering cells to an earlier, more primitive state but reprogrammed to have increased cell survival rates and therefore their potential for clinical use.
References: Dedifferentiation-Reprogrammed Mesenchymal Stem Cells with Improved Therapeutic Potential
Yang Liu, Xiaohua Jiang, Xiaohu Zhang, Rui Chen, Tingting Sun, Kin Lam Fok, Jianda Dong, Lai Ling Tsang, Shaoqiong Yi, Yechun Ruan, Jinghui Guo, Mei Kuen Yu, Yuemin Tian, Yiu Wa Chung, Mo Yang, Wenming Xu, Chin Man Chung, Tingyu Li and Hsiao Chang Chan. Accepted manuscript online: 3 NOV 2011 08:50AM EST | DOI: 10.1002/stem.764
The results confirm that de-differentiation is a workable technique for reengineering cells to an earlier, more primitive state but reprogrammed to have increased cell survival rates and therefore their potential for clinical use.
References: Dedifferentiation-Reprogrammed Mesenchymal Stem Cells with Improved Therapeutic Potential
Yang Liu, Xiaohua Jiang, Xiaohu Zhang, Rui Chen, Tingting Sun, Kin Lam Fok, Jianda Dong, Lai Ling Tsang, Shaoqiong Yi, Yechun Ruan, Jinghui Guo, Mei Kuen Yu, Yuemin Tian, Yiu Wa Chung, Mo Yang, Wenming Xu, Chin Man Chung, Tingyu Li and Hsiao Chang Chan. Accepted manuscript online: 3 NOV 2011 08:50AM EST | DOI: 10.1002/stem.764
Saturday, November 5, 2011
A pilot trial of deferiprone for neurodegeneration with brain iron accumulation
haematol November 1, 2011 vol. 96 no. 11 1708-1711, doi: 10.3324/haematol.2011.043018
Giovanni Abbruzzese,Giovanni Cossu, Manuela Balocco, Roberta Marchese, Daniela Murgia, Maurizio Melis, Renzo Galanello, Susanna Barella, Gildo Matta, Uberto Ruffinengo, Ubaldo Bonuccelli and
Gian Luca Forni.
FULL TEXT PDF
Giovanni Abbruzzese,Giovanni Cossu, Manuela Balocco, Roberta Marchese, Daniela Murgia, Maurizio Melis, Renzo Galanello, Susanna Barella, Gildo Matta, Uberto Ruffinengo, Ubaldo Bonuccelli and
Gian Luca Forni.
FULL TEXT PDF
Pharmacology: New methods to permeabilize the blood–brain barrier
Nature Reviews Neurology 7, 597 (November 2011) | doi:10.1038/nrneurol.2011.161
Katy Malpass.
Keywords: animal models, tight vascular endothelial junctions, blood–brain barrier (BBB), drug delivery to the brain, neurological disorders.
Katy Malpass.
Keywords: animal models, tight vascular endothelial junctions, blood–brain barrier (BBB), drug delivery to the brain, neurological disorders.
Friday, November 4, 2011
Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders
Molecular Therapy (2011); 19 11, 1971–1980. doi:10.1038/mt.2011.157
Adam K Bevan1,2, Sandra Duque3, Kevin D Foust1, Pablo R Morales4, Lyndsey Braun1, Leah Schmelzer1, Curtis M Chan5, Mary McCrate1,6, Louis G Chicoine1,6, Brian D Coley7, Paul N Porensky3,8, Stephen J Kolb3,9, Jerry R Mendell1,6,9, Arthur HM Burghes2,3 and Brian K Kaspar1,2,3,6,10
1Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA
2Integrated Biomedical Sciences Graduate Program, The Ohio State University, Columbus, Ohio, USA
3Department of Molecular and Cellular Biochemistry, The Ohio State University, Columbus, Ohio, USA
4The Mannheimer Foundation, Inc., Homestead, Florida, USA
5Special Pathology Services, Charles River, Preclinical Services, Reno, Nevada, USA
6Department of Pediatrics, The Ohio State University/Nationwide Children's Hospital, Columbus, Ohio, USA
7Department of Radiology, The Ohio State University, Columbus, Ohio, USA
8Department of Neurological Surgery, The Ohio State University, Columbus, Ohio, USA
9Department of Neurology, The Ohio State University, Columbus, Ohio, USA
10Department of Neurosciences, The Ohio State University, Columbus, Ohio, USA
Our findings support the use of AAV9 for gene transfer to the CNS for disorders in pediatric populations.
MT-OPEN FULL TEXT
Adam K Bevan1,2, Sandra Duque3, Kevin D Foust1, Pablo R Morales4, Lyndsey Braun1, Leah Schmelzer1, Curtis M Chan5, Mary McCrate1,6, Louis G Chicoine1,6, Brian D Coley7, Paul N Porensky3,8, Stephen J Kolb3,9, Jerry R Mendell1,6,9, Arthur HM Burghes2,3 and Brian K Kaspar1,2,3,6,10
1Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA
2Integrated Biomedical Sciences Graduate Program, The Ohio State University, Columbus, Ohio, USA
3Department of Molecular and Cellular Biochemistry, The Ohio State University, Columbus, Ohio, USA
4The Mannheimer Foundation, Inc., Homestead, Florida, USA
5Special Pathology Services, Charles River, Preclinical Services, Reno, Nevada, USA
6Department of Pediatrics, The Ohio State University/Nationwide Children's Hospital, Columbus, Ohio, USA
7Department of Radiology, The Ohio State University, Columbus, Ohio, USA
8Department of Neurological Surgery, The Ohio State University, Columbus, Ohio, USA
9Department of Neurology, The Ohio State University, Columbus, Ohio, USA
10Department of Neurosciences, The Ohio State University, Columbus, Ohio, USA
Our findings support the use of AAV9 for gene transfer to the CNS for disorders in pediatric populations.
MT-OPEN FULL TEXT
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