Heather Wood; Nature Reviews Neurology (2015) doi:10.1038/nrneurol.2015.161 Published online 15 September 2015
Given the limited availability of new therapies for neurological disease, repurposing of existing drugs is an approach that is being increasingly explored. A randomized controlled trial, conducted in Italy provides evidence that this drug could also be beneficial in patients with hereditary cerebellar ataxia, spinocerebellar ataxia and Friedreich ataxia.
Thursday, September 17, 2015
Wednesday, September 16, 2015
R loops: new modulators of genome dynamics and function
José M. Santos-Pereira & Andrés Aguilera, Nature Reviews Genetics (2015) doi:10.1038/nrg3961, Published online 15 September 2015
R loops are also a major threat to genome stability. For this reason, several DNA and RNA metabolism factors prevent R-loop formation in cells. Dysfunction of these factors causes R-loop accumulation, which leads to replication stress, genome instability, chromatin alterations or gene silencing. Importantly, Friedreich ataxia (FRDA) and fragile X syndrome (FXS) occur as a result of repeat expansions in the frataxin (FXN) and fragile X mental retardation 1 (FMR1) genes, respectively; this leads to gene silencing through H3K9me2 deposition on the expanded regions, which thus become fragile. Such expansions accumulate R loops, providing a new link among heterochromatin, R loops and replication-dependent fragility.
R loops are also a major threat to genome stability. For this reason, several DNA and RNA metabolism factors prevent R-loop formation in cells. Dysfunction of these factors causes R-loop accumulation, which leads to replication stress, genome instability, chromatin alterations or gene silencing. Importantly, Friedreich ataxia (FRDA) and fragile X syndrome (FXS) occur as a result of repeat expansions in the frataxin (FXN) and fragile X mental retardation 1 (FMR1) genes, respectively; this leads to gene silencing through H3K9me2 deposition on the expanded regions, which thus become fragile. Such expansions accumulate R loops, providing a new link among heterochromatin, R loops and replication-dependent fragility.
Monday, September 14, 2015
Jones Tendon Transfer
Richard Derner, Jeffrey Holmes, Clinics in Podiatric Medicine and Surgery, Available online 12 September 2015, ISSN 0891-8422, http://dx.doi.org/10.1016/j.cpm.2015.06.004.
Charcot-Marie-Tooth (CMT), poliomyelitis, Roussy-Le´vy syndrome, and Friedreich ataxia are the most common lower motor neuron diseases causing disorders of the foot and lower extremities.
Charcot-Marie-Tooth (CMT), poliomyelitis, Roussy-Le´vy syndrome, and Friedreich ataxia are the most common lower motor neuron diseases causing disorders of the foot and lower extremities.
Sunday, September 13, 2015
MRI Texture Analysis Reveals Bulbar Abnormalities in Friedreich Ataxia
T.A. Santos, C.E.B. Maistro, C.B. Silva, M.S. Oliveira, M.C. França Jr and G. Castellano; AJNR Am J Neuroradiol. Published online before print September 10, 2015, doi: 10.3174/ajnr.A4455
Gray level co-occurrence matrix–based texture analysis showed statistically significant differences for the medulla oblongata of patients with Friedreich ataxia compared with controls. These results highlight the medulla as an important site of damage in Friedreich ataxia.
Gray level co-occurrence matrix–based texture analysis showed statistically significant differences for the medulla oblongata of patients with Friedreich ataxia compared with controls. These results highlight the medulla as an important site of damage in Friedreich ataxia.
Saturday, September 12, 2015
Characterisation of the retinal pigment epithelium in Friedreich ataxia
Duncan E. Crombie, Nicole Van Bergen, Kathryn C. Davidson, Sara Anjomani Virmouni, Penny A. Mckelvie, Vicki Chrysostomou, Alison Conquest, Louise A. Corben, Mark A. Pook, Tejal Kulkani, Ian Trounce, Martin F. Pera, Martin B. Delatycki, Alice Pébay; Biochemistry and Biophysics Reports, Available online 11 September 2015, ISSN 2405-5808, http://dx.doi.org/10.1016/j.bbrep.2015.09.003
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OPEN ACCESS
Friday, September 11, 2015
Redox- and non-redox-metal-induced formation of free radicals and their role in human disease
Marian Valko , Klaudia Jomova, Christopher J. Rhodes, Kamil Kuča, Kamil Musílek; Archives of Toxicology, First online: 07 September 2015 DOI:10.1007/s00204-015-1579-5
Frataxin is a mitochondrial iron chaperone protein and plays a key role in the insertion of ferrous ions during the assembly of iron–sulfur clusters in the mitochondrial respiratory chain. The defect leads to the release of mitochondrial iron with in turn may catalyze hydroxyl radical formation via Fenton chemistry.
Frataxin is a mitochondrial iron chaperone protein and plays a key role in the insertion of ferrous ions during the assembly of iron–sulfur clusters in the mitochondrial respiratory chain. The defect leads to the release of mitochondrial iron with in turn may catalyze hydroxyl radical formation via Fenton chemistry.
Thursday, September 10, 2015
OUHSC professor, researcher gets $300,000 grant for research
The Oklahoma Daily; Wed Sep 9, 2015.
The three-year grant of $300,000 will fund research into promising therapies for a neuromuscular disease known as Friedreich's ataxia. Sanjay Bidichandani, is a professor of pediatrics at the OU College of Medicine and has worked at OU in the field of genetic research since 2000. Bidichandani’s research will evaluate the effectiveness of a new drug class known as HDAC inhibitors.
The three-year grant of $300,000 will fund research into promising therapies for a neuromuscular disease known as Friedreich's ataxia. Sanjay Bidichandani, is a professor of pediatrics at the OU College of Medicine and has worked at OU in the field of genetic research since 2000. Bidichandani’s research will evaluate the effectiveness of a new drug class known as HDAC inhibitors.
Tuesday, September 8, 2015
Prospects of gene and cell therapy for managing cardiac complications in Friedreich ataxia
Charles J Isaacs, Julianna E Shinnick, Kimberly Schadt, David R Lynch & Kimberly Y Lin; Expert Opinion on Orphan Drugs, Published online: 02 Sep 2015 DOI: 10.1517/21678707.2015.1083854
The state of research into gene and cell therapy for cardiac issues in FRDA is one that deserves cautious optimism. As these therapies move closer to testing in humans, researchers will need to identify proper dosing and delivery methods based on the nature of the patient’s disease, as well as which patient groups are most likely to realize benefits from proposed treatments. Future studies must further assess risk in larger animals and plan ways to minimize risk in human trials.
The state of research into gene and cell therapy for cardiac issues in FRDA is one that deserves cautious optimism. As these therapies move closer to testing in humans, researchers will need to identify proper dosing and delivery methods based on the nature of the patient’s disease, as well as which patient groups are most likely to realize benefits from proposed treatments. Future studies must further assess risk in larger animals and plan ways to minimize risk in human trials.
Monday, September 7, 2015
Quantitative evaluation of gait ataxia by accelerometers
Shinichi Shirai, Ichiro Yabe, Masaaki Matsushima, Yoichi M. Ito, Mitsuru Yoneyama, Hidenao Sasaki, Journal of the Neurological Sciences, Available online 3 September 2015, ISSN 0022-510X, http://dx.doi.org/10.1016/j.jns.2015.09.004.
Effect of power-assisted hand-rim wheelchair propulsion on shoulder load in experienced wheelchair users: A pilot study with an instrumented wheelchair
Marieke G.M. Kloosterman, Jaap H. Buurke, Wiebe de Vries, Lucas H.V. Van der Woude, Johan S. Rietman, Medical Engineering & Physics, Available online 22 August 2015, ISSN 1350-4533, http://dx.doi.org/10.1016/j.medengphy.2015.07.004.
According to the guidelines, in order to create a better balance between mechanical loading and the work-capacity of the shoulder complex during propulsion, power-assisted propulsion on a treadmill is effective in reducing the majority of the potential risk factors of shoulder injury. Therefore, the use of power-assisted wheelchairs might be indicated for subjects prone to developing overuse injuries due to hand-rim propulsion or subjects with difficulties driving a hand-rim wheelchair primarily due to lack of upper-extremity power.
According to the guidelines, in order to create a better balance between mechanical loading and the work-capacity of the shoulder complex during propulsion, power-assisted propulsion on a treadmill is effective in reducing the majority of the potential risk factors of shoulder injury. Therefore, the use of power-assisted wheelchairs might be indicated for subjects prone to developing overuse injuries due to hand-rim propulsion or subjects with difficulties driving a hand-rim wheelchair primarily due to lack of upper-extremity power.
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