Handb Clin Neurol. 2011;103:275-94.
Pandolfo M.
Thursday, August 11, 2011
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
Tuesday, August 2, 2011
The scale for the assessment and rating of ataxia correlates with dysarthria assessment in Friedreich's ataxia
Journal of Neurology, DOI: 10.1007/s00415-011-6192-9
Andreas Eigentler, Johanna Rhomberg, Wolfgang Nachbauer, Irmgard Ritzer, Werner Poewe and Sylvia Boesch
Keywords: Dysarthria, motor functions, Frenchay Dysarthria Assessment, clinical and logopedic methodology, reflexes, palate, tongue, intelligibility.
Andreas Eigentler, Johanna Rhomberg, Wolfgang Nachbauer, Irmgard Ritzer, Werner Poewe and Sylvia Boesch
Keywords: Dysarthria, motor functions, Frenchay Dysarthria Assessment, clinical and logopedic methodology, reflexes, palate, tongue, intelligibility.
Thursday, July 28, 2011
The role of induced pluripotent stem cells in regenerative medicine: neurodegenerative diseases
Stem Cell Research & Therapy 2011, 2:32 doi:10.1186/scrt73, Published: 28 July 2011
Jun Peng and Xianmin Zeng
Keywords: Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, Friedreich's ataxia, neurodegenerative diseases, no effective clinical therapies, human adult somatic cells, induced pluripotent stem cells (iPSCs), in vitro disease mechanism study, in vivo cell replacement therapy.
Jun Peng and Xianmin Zeng
Keywords: Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, Friedreich's ataxia, neurodegenerative diseases, no effective clinical therapies, human adult somatic cells, induced pluripotent stem cells (iPSCs), in vitro disease mechanism study, in vivo cell replacement therapy.
A pilot trial of deferiprone for neurodegeneration with brain iron accumulation.
Haematologica. 2011 Jul 26. [Epub ahead of print]
Abbruzzese G, Cossu G, Balocco M, Marchese R, Murgia D, Melis M, Galanello R, Barella S, Matta G, Ruffinengo U, Bonuccelli U, Forni GL.
(Clinicaltrials.gov identifier: NTC00907283.)
Keywords: Deferiprone, Friedreich's ataxia, cerebral iron accumulation, pantothenate kinase-associated neurodegeneration, parkinsonism and focal dystonia, Magnetic resonance imaging, neurological examinations, Chelation treatment.
Abbruzzese G, Cossu G, Balocco M, Marchese R, Murgia D, Melis M, Galanello R, Barella S, Matta G, Ruffinengo U, Bonuccelli U, Forni GL.
(Clinicaltrials.gov identifier: NTC00907283.)
Keywords: Deferiprone, Friedreich's ataxia, cerebral iron accumulation, pantothenate kinase-associated neurodegeneration, parkinsonism and focal dystonia, Magnetic resonance imaging, neurological examinations, Chelation treatment.
Monday, July 25, 2011
RNA-mediated transcriptional gene silencing in Friedreich ataxia
Current Opinion in Biotechnology, Volume 22, Supplement 1, September 2011, Page S16, European Biotechnology Congress 2011
Sanjay Bidichandani, Angela Castro and Yogesh Chutake
Department of Biochemistry & Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
You can find the abstract in the Strasbourg FARA conference summary.
http://www.curefa.org/_pdf/4thInternationalFAConferenceAbstracts.pdf
Sanjay Bidichandani, Angela Castro and Yogesh Chutake
Department of Biochemistry & Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
You can find the abstract in the Strasbourg FARA conference summary.
http://www.curefa.org/_pdf/4thInternationalFAConferenceAbstracts.pdf
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