Wednesday, August 24, 2011
MDA FUNDS UNIVERSITY OF PENNSYLVANIA NEUROLOGIST EXPLORING LINK BETWEEN DIABETES AND FRIEDREICH’S ATAXIA
TUCSON, Ariz., Aug. 23, 2011–The Muscular Dystrophy Association has awarded neurology professor David Lynch, M.D., Ph.D., at University of Pennsylvania School of Medicine, a $202,222 grant to study the connection between diabetes and Friedreich’s Ataxia (FA). Lynch has been an MDA-funded investigator for many years.
Sunday, August 21, 2011
Autosomal recessive cerebellar ataxias: the current state of affairs
J Med Genet doi:10.1136/jmedgenet-2011-100210
S Vermeer1, B P C van de Warrenburg2, M A A P Willemsen2, M Cluitmans1, H Scheffer1,3, B P Kremer4, N V A M Knoers1,5
1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 2Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 3Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 4Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands, 5Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
Keywords: hereditary ataxias, autosomal recessive cerebellar ataxias (ARCAs), cerebellar syndrome, atypical phenotypes, genetic heterogeneity, ARCA genes, pathophysiological mechanisms.
S Vermeer1, B P C van de Warrenburg2, M A A P Willemsen2, M Cluitmans1, H Scheffer1,3, B P Kremer4, N V A M Knoers1,5
1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 2Department of Neurology, Donders Institute of Brain, Cognition and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 3Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 4Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands, 5Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
Keywords: hereditary ataxias, autosomal recessive cerebellar ataxias (ARCAs), cerebellar syndrome, atypical phenotypes, genetic heterogeneity, ARCA genes, pathophysiological mechanisms.
Thursday, August 18, 2011
Thursday, August 11, 2011
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.
Neurogenetics. 2011 Aug 10.
Evans-Galea MV, Corben LA, Hasell J, Galea CA, Fahey MC, du Sart D, Delatycki MB.
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Australia.
Keywords: Friedreich ataxia (FRDA), GAA trinucleotide repeat expansion in the first intron of FXN, frataxin, early onset of symptoms, novel deletion-insertion mutation in exon 3 (c.371_376del6ins15).
Evans-Galea MV, Corben LA, Hasell J, Galea CA, Fahey MC, du Sart D, Delatycki MB.
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Australia.
Keywords: Friedreich ataxia (FRDA), GAA trinucleotide repeat expansion in the first intron of FXN, frataxin, early onset of symptoms, novel deletion-insertion mutation in exon 3 (c.371_376del6ins15).
Other autosomal recessive and childhood ataxias.
Handb Clin Neurol. 2011;103:343-57.
De Michele G, Filla A.
Keywords: "early-onset cerebellar ataxia with retained tendon reflexes" (EOCA), Friedreich ataxia (FRDA), preserved knee jerks, absence of cardiomyopathy, optic atrophy, diabetes mellitus, several FRDA patients present with an EOCA-like phenotype, Cerebellar ataxia with hypogonadism, autosomal recessive ataxia of Charlevoix-Saguenay (ARSACS), infantile-onset spinocerebellar ataxia (IOSCA).
De Michele G, Filla A.
Keywords: "early-onset cerebellar ataxia with retained tendon reflexes" (EOCA), Friedreich ataxia (FRDA), preserved knee jerks, absence of cardiomyopathy, optic atrophy, diabetes mellitus, several FRDA patients present with an EOCA-like phenotype, Cerebellar ataxia with hypogonadism, autosomal recessive ataxia of Charlevoix-Saguenay (ARSACS), infantile-onset spinocerebellar ataxia (IOSCA).
Wednesday, August 10, 2011
Targeting Mitochondrial Dysfunction and Neurodegeneration by Means of Coenzyme Q10 and its Analogues.
Curr Med Chem. 2011 Aug 9.
Orsucci D, Mancuso M, Ienco EC, Logerfo A, Siciliano G.
Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
Keywords: Coenzyme Q10, respiratory chain, antioxidant properties, mitochondrial disorders, reactive oxygen species, idebenone, mitoquinone, Friedreich ataxia, cardiac hypertrophy, improve neurological function.
Orsucci D, Mancuso M, Ienco EC, Logerfo A, Siciliano G.
Department of Neuroscience, Neurological Clinic, University of Pisa, Italy
Keywords: Coenzyme Q10, respiratory chain, antioxidant properties, mitochondrial disorders, reactive oxygen species, idebenone, mitoquinone, Friedreich ataxia, cardiac hypertrophy, improve neurological function.
Tuesday, August 9, 2011
Friedreich's Ataxia: a review from a cardiology perspective.
Ir J Med Sci. 2011 Aug 7.
Bourke T, Keane D.
Cardiac Arrhythmia Service, St Vincent's University Hospital, Dublin, Ireland
Keywords: Friedreich's Ataxia (FA), morbidity, mortality, premature death, Hypertrophic cardiomyopathy, cardiac examination, ECG, ECHO, left ventricular outflow gradient.
Bourke T, Keane D.
Cardiac Arrhythmia Service, St Vincent's University Hospital, Dublin, Ireland
Keywords: Friedreich's Ataxia (FA), morbidity, mortality, premature death, Hypertrophic cardiomyopathy, cardiac examination, ECG, ECHO, left ventricular outflow gradient.
Saturday, August 6, 2011
Glutathione: a key component of the cytoplasmic labile iron pool.
Biometals. 2011 Jul 17.
Hider RC, Kong XL.
Institute of Pharmaceutical Science, King's College London
Keywords: cytoplasmic labile iron pool, heme, iron sulfur cluster synthesis, iron(II)glutathione, iron(II), manganese(II),synthesis of Fe-S cluster proteins.
Hider RC, Kong XL.
Institute of Pharmaceutical Science, King's College London
Keywords: cytoplasmic labile iron pool, heme, iron sulfur cluster synthesis, iron(II)glutathione, iron(II), manganese(II),synthesis of Fe-S cluster proteins.
Wednesday, August 3, 2011
STATegics, Inc. Announces a Grant From Friedreich's Ataxia Research Alliance to Support Its Program to Develop Small Molecule Mimetics of Erythropoietin for the Treatment of Friedreich's Ataxia
MENLO PARK, Calif., Aug. 2, 2011 (GLOBE NEWSWIRE) -- STATegics, Inc. announced today that the Friedreich's Ataxia Research Alliance (FARA) has awarded the Company $152,690 to advance its proprietary small molecule erythropoietin mimetic compounds for the treatment of Friedreich's ataxia (FRDA),read more
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