Cognition in Late-Onset Friedreich Ataxia. Nieto A, Correia R, de Nóbrega E, Montón F, Barroso J.; Cerebellum. 2013 Feb 9. DOI 10.1007/s12311-013-0457-z.
Keywords: Friedreich ataxia (FRDA), Friedreich ataxia-LOFA, processing speed, attention, working memory, executive functions, verbal and visual memory, visuoperceptive and visuospatial skills, visuoconstructive functions, and language.
Tuesday, February 12, 2013
Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support
Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Matilda Anderson, Elizabeth J Elliott, Yvonne A Zurynski, Orphanet Journal of Rare Diseases 2013, 8:22 doi:10.1186/1750-1172-8-22. Published: 11 February 2013.
Families of children living with a rare disease report significant health and social burden, however, few studies have systematically examined family needs by using validated tools to assess the scope and extent of this burden. Our aim was to develop a comprehensive survey to assess health, psychosocial and financial impacts on Australian families caring for a child with a rare disease.
Australian families caring for children with genetic metabolic disorders are adversely impacted by delays in diagnosis, lack of easy access to peer support groups and lack of psychological support. Further research is needed to estimate economic impact and to analyse health service delivery models for children with rare diseases in Australia.
OPEN ACCESS FULL TEXT PDF
Families of children living with a rare disease report significant health and social burden, however, few studies have systematically examined family needs by using validated tools to assess the scope and extent of this burden. Our aim was to develop a comprehensive survey to assess health, psychosocial and financial impacts on Australian families caring for a child with a rare disease.
Australian families caring for children with genetic metabolic disorders are adversely impacted by delays in diagnosis, lack of easy access to peer support groups and lack of psychological support. Further research is needed to estimate economic impact and to analyse health service delivery models for children with rare diseases in Australia.
OPEN ACCESS FULL TEXT PDF
Monday, February 11, 2013
Review about ataxias
ATAXIA, Dr. M. Yasser Metwally, Professor of neurology, Ain Shams university, Cairo, Egypt
Interesting paper about ataxia diagnosis. The site also contains extensive information on neurology, diagnostic imaging, etc.
Friedreich's ataxia pg 21-28
Site: http://yassermetwally.com/
Interesting paper about ataxia diagnosis. The site also contains extensive information on neurology, diagnostic imaging, etc.
Friedreich's ataxia pg 21-28
Site: http://yassermetwally.com/
Sunday, February 10, 2013
Scientists Find Way to Knockup Genes
Scientists Find Way to Knockup Genes. PR Newswire, CAMBRIDGE, England, Jan. 31, 2013 /PRNewswire/
"In many ways, the technique is the opposite of RNAi"
Italian scientists use molecular RNA Chaperones to increase protein production from individual genes. The technique is being hailed as a breakthrough in biotechnology that will transform cell science, accelerating the development of new medicines.
A non-coding RNA specifically binds to messenger RNA (mRNA) from the target gene. It then acts as a chaperone, efficiently escorting the target mRNA to ribosomes, where proteins are made.
"In many ways, the technique is the opposite of RNAi"
Italian scientists use molecular RNA Chaperones to increase protein production from individual genes. The technique is being hailed as a breakthrough in biotechnology that will transform cell science, accelerating the development of new medicines.
A non-coding RNA specifically binds to messenger RNA (mRNA) from the target gene. It then acts as a chaperone, efficiently escorting the target mRNA to ribosomes, where proteins are made.
Saturday, February 9, 2013
Upregulation of the Mitochondrial Lon Protease Allows Adaptation to Acute Oxidative Stress but Dysregulation is Associated with Chronic Stress, Disease, and Aging
Upregulation of the Mitochondrial Lon Protease Allows Adaptation to Acute Oxidative Stress but Dysregulation is Associated with Chronic Stress, Disease, and Aging. Jenny K. Ngo, Laura C.D. Pomatto, Kelvin J.A. Davies. Redox Biology, Available online 9 February 2013. http://dx.doi.org/10.1016/j.redox.2013.01.015.
Keywords: Adaptation, Hormesis, Lon Protease, Protein Degradation and Oxidation, Mitochondria, Oxidative Stress.
In a Friedreich Ataxia mouse model, in which frataxin has been deleted in striated muscles, an increase in ClpP and Lon mRNA, protein, and activity was observed in the isolated mitochondria of mice between 5 and 10 weeks of age [55]. The upregulation of Lon and ClpP was accompanied by a progressive loss of mitochondrial Fe-S proteins with no change in mRNA levels, suggesting degradation.
See also: Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins
Keywords: Adaptation, Hormesis, Lon Protease, Protein Degradation and Oxidation, Mitochondria, Oxidative Stress.
In a Friedreich Ataxia mouse model, in which frataxin has been deleted in striated muscles, an increase in ClpP and Lon mRNA, protein, and activity was observed in the isolated mitochondria of mice between 5 and 10 weeks of age [55]. The upregulation of Lon and ClpP was accompanied by a progressive loss of mitochondrial Fe-S proteins with no change in mRNA levels, suggesting degradation.
See also: Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins
The Gait Variability Index: A new way to quantify fluctuation magnitude of spatiotemporal parameters during gait
The Gait Variability Index: A new way to quantify fluctuation magnitude of spatiotemporal parameters during gait. Arnaud Gouelle, Fabrice Mégrot, Ana Presedo, Isabelle Husson, Alain Yelnik, Georges-François Penneçot. Gait & Posture, Available online 8 February 2013. http://dx.doi.org/10.1016/j.gaitpost.2013.01.013
Keywords: Gait variability, Fluctuation magnitude, Spatiotemporal parameters, Friedreich's Ataxia
Keywords: Gait variability, Fluctuation magnitude, Spatiotemporal parameters, Friedreich's Ataxia
Hypoxia inducible factor prolyl hydroxylases as targets for neuroprotection by “antioxidant” metal chelators: From ferroptosis to stroke
Hypoxia inducible factor prolyl hydroxylases as targets for neuroprotection by “antioxidant” metal chelators: From ferroptosis to stroke. Rachel E. Speer, Saravanan S. Karuppagounder, Manuela Basso, Sama Sleiman, Amit Kumar, David Brand, Natalya Smirnova, Irina Gazaryan, Soah J. Khim, Rajiv R. Ratan. Free Radical Biology and Medicine, Available online 31 January 2013. http://dx.doi.org/10.1016/j.freeradbiomed.2013.01.026
Keywords: Metal chelators, Neurodegeneration, Hypoxia inducible factors, Transcription, Prolyl hydroxylases.
See also:
Frataxin participates to the hypoxia-induced response in tumors
Neuroprotective Multifunctional Iron Chelators: From Redox-Sensitive Process to Novel Therapeutic Opportunities
Keywords: Metal chelators, Neurodegeneration, Hypoxia inducible factors, Transcription, Prolyl hydroxylases.
See also:
Frataxin participates to the hypoxia-induced response in tumors
Neuroprotective Multifunctional Iron Chelators: From Redox-Sensitive Process to Novel Therapeutic Opportunities
Mesenchymal stem cells exert a remarkable regenerative effect requiring minimal CNS integration
Mesenchymal stem cells exert a remarkable regenerative effect requiring minimal CNS integration. Antonio Uccelli, Experimental Neurology, Available online 4 February 2013.
The concept of repair of the nervous system by adult stem cells has recently evolved from the original hypothesis that tissue regeneration could have been achieved through stem cells differentiation into neural cells to the current vision that they act mainly by means of paracrine mechanisms. Is preferable the stem cells transplantation or the administration of their secreted factors?.
Keywords: Mesenchymal stem cells, microglia, chemokines, neuroprotection, immunomodulation
The concept of repair of the nervous system by adult stem cells has recently evolved from the original hypothesis that tissue regeneration could have been achieved through stem cells differentiation into neural cells to the current vision that they act mainly by means of paracrine mechanisms. Is preferable the stem cells transplantation or the administration of their secreted factors?.
Keywords: Mesenchymal stem cells, microglia, chemokines, neuroprotection, immunomodulation
The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada
The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada. Michael S Salman, Esther J Lee, Anindita Tjahjadi and Bernard N Chodirker. Developmental Medicine & Child Neurology, Article first published online: 7 FEB 2013 | DOI: 10.1111/dmcn.12081
Keywords: retrospective study, age 0–16y, from 1991 to 2008, 184 patients, Angelman syndrome (n=16), ataxia telangiectasia (n=13), mitochondrial disease (n=9), Friedreich ataxia (n=7), stroke (n=7), familial/genetic episodic ataxia (n=7).
Keywords: retrospective study, age 0–16y, from 1991 to 2008, 184 patients, Angelman syndrome (n=16), ataxia telangiectasia (n=13), mitochondrial disease (n=9), Friedreich ataxia (n=7), stroke (n=7), familial/genetic episodic ataxia (n=7).
Friday, February 8, 2013
The Reciprocal Cerebellar Circuitry in Human Hereditary Ataxia.
The Reciprocal Cerebellar Circuitry in Human Hereditary Ataxia. Koeppen AH, Ramirez RL, Bjork ST, Bauer P, Feustel PJ.. Cerebellum. 2013 Feb 7. [Epub ahead of print].
Keywords: spinocerebellar ataxias (SCA), Friedreich's ataxia (FRDA), central and peripheral nervous systems, "reciprocal cerebellar circuitry", Purkinje cells, dentate nuclei (DN), inferior olivary nuclei (ION).
Keywords: spinocerebellar ataxias (SCA), Friedreich's ataxia (FRDA), central and peripheral nervous systems, "reciprocal cerebellar circuitry", Purkinje cells, dentate nuclei (DN), inferior olivary nuclei (ION).
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