Movement disorders: Friedreich ataxia today-preparing for the final battle

Nature Reviews Neurology

Volumn 11, Issue 4, 2015, Pages 188-190

  De Michele, Giuseppe ^a   Filla, Alessandro ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN; HISTONE DEACETYLASE INHIBITOR; IDEBENONE; PLACEBO; RG 2833; UNCLASSIFIED DRUG;

CLINICAL FEATURE; DISEASE COURSE; DOSE RESPONSE; DRUG EFFECT; DRUG EFFICACY; FRIEDREICH ATAXIA; FXN GENE; GENE EXPRESSION; GENE MUTATION; GENE SILENCING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; NOTE; PATHOGENESIS; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT; DATABASES, FACTUAL; FEMALE; GENETICS; HUMANS; MALE; TRANSLATIONAL MEDICAL RESEARCH;

DATABASES, FACTUAL; FEMALE; FRIEDREICH ATAXIA; HUMANS; MALE; TRANSLATIONAL MEDICAL RESEARCH;

EID: 84926522586     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2015.33     Document Type: Note

References (10)

1. Campuzano, V. et al. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423-1427 (1996).
2. Reetz, K. et al. Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: A cross-sectional analysis of baseline data. Lancet Neurol. 14, 174-182 (2015).
3. Schmucker, S. & Puccio, H. Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. Hum. Mol. Genet. 19, R103-R110 (2010).
4. Saccà, F. et al. A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. PLoS ONE 6, e17627 (2011).
5. Filla, A. et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am. J. Hum. Genet. 59, 554-560 (1996).
6. Dürr, A. et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N. Engl. J. Med. 335, 1169-1175 (1996).
7. Pandolfo, M. et al. Deferiprone in Friedreich ataxia: A 6month randomized controlled trial. Ann. Neurol. 76, 509-521 (2014).
8. Parkinson, M. H., Schulz, J. B. & Giunti, P. Coenzyme Q10 and idebenone use in Friedreich's ataxia. J. Neurochem. 126 (Suppl. 1), 125-141 (2013).
9. Soragni, E. et al. Epigenetic therapy for Friedreich ataxia. Ann. Neurol. 76, 489-508 (2014).
10. Plasterer, H. L. et al. Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia. PLoS ONE 8, e63958 (2013).