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.