Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with Hereditary Ataxia

Journal of Translational Medicine 2011, 9:65 doi:10.1186/1479-5876-9-65

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Wan-Zhang Yang1, Yun Zhang2, Fang Wu1, Min Zhang1, SC Cho3, Chun-Zhen Li1, Shao-Hui Li1, Guo-Jian Shu1, You-Xiang Sheng1, Ning Zhao1, Ying Tang1, Shu Jiang2, Shan Jiang2, Matthew Gandjian4, Thomas E Ichim4* and Xiang Hu2

1 Department of Rehabilitation Medicine, Nanshan Affiliated Hospital of Guangdong Medical College, Shenzhen, China

2 Shenzhen Beike Cell Engineering Research Institution, Shenzhen, China

3 Department of Neurology and Neurosurgery, Stanford University, Stanford, CA, USA

4 Medistem Inc, San Diego, CA, USA

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The PPAR-gamma agonist pioglitazone modulates inflammation and induces neuroprotection in parkinsonian monkeys

Journal of Neuroinflammation 2011, 8:91 doi:10.1186/1742-2094-8-91

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Christine R Swanson, Valerie Joers, Viktorya Bondarenko, Kevin Brunner, Heather A Simmons, Toni E Ziegler, Joseph W Kemnitz, Jeffrey A Johnson and Marina E Emborg

Activation of the peroxisome proliferator-activated receptor gamma (PPAR-gamma) has been proposed as a possible neuroprotective strategy to slow down the progression of early Parkinson's disease (PD). Here we report preclinical data on the use of the PPAR-gamma agonist pioglitazone (Actos(R); Takeda Pharmaceuticals Ltd.) in a paradigm resembling early PD in nonhuman primates.

Clinically, pioglitazone has been tested for Alzheimer disease, multiple sclerosis, autism, stroke, amyotrophic lateral sclerosis, and Friedreich’s Ataxia. The results of these small clinical trials suggest that its administration can benefit patients with neurological disorders.

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Movement disorders in spinocerebellar ataxias

Movement Disorders. doi: 10.1002/mds.23928 (Article first published online: 24 AUG 2011)

Pedroso, J. L., Felicio, A. C., Braga-Neto, P. and Barsottini, O. G.

"No abstract is available for this article."

MDA has awarded a research grant to Des Richardson, professor and senior principal research fellow at the University of Sydney (Australia) to continued research into iron metabolism in Friedreich's ataxia (FA).

The aim of Richardson's studies is to examine the role of altered iron metabolism in the cellular energy factories called mitochondria.

Dual role of the mitochondrial protein frataxin in astrocytic tumors

Laboratory Investigation , (22 August 2011) | doi:10.1038/labinvest.2011.130

Elmar Kirches, Nadine Andrae, Aline Hoefer, Barbara Kehler, Kim Zarse, Martin Leverkus, Gerburg Keilhoff, Peter Schonfeld, Thomas Schneider, Annette Wilisch-Neumann and Christian Mawrin

Keywords: frataxin (FXN), mitochondrial iron homeostasis, iron–sulfur cluster biogenesis, electron transport chain, reactive oxygen species (ROS), Friedreich's ataxia, suggest a dual, pro-proliferative but chemosensitizing role in astrocytic tumors.

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.

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.

LUNDBECK, Lu AA24493 the Clinical Phase II results do not support further development of the drug in FA

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).

Friedreich ataxia.

Handb Clin Neurol. 2011;103:275-94.

Pandolfo M.

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).

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.

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.

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.

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

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.