Literature DB >> 14689254

Friedreich ataxia-update on pathogenesis and possible therapies.

Max Voncken1, Panos Ioannou, Martin B Delatycki.   

Abstract

Friedreich ataxia is the most-common inherited ataxia. Since the causative genetic basis was described in 1996, much has been learnt about the pathogenesis from human, animal, and yeast studies. This has led to the development of rational therapeutic approaches. In this review, the current state of knowledge regarding the pathogenesis of Friedreich ataxia is presented and possible therapeutic strategies based on this knowledge are discussed.

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Year:  2003        PMID： 14689254     DOI： 10.1007/s10048-003-0170-z

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


  97 in total

1.  The Sydney Children's Hospital experience with the oral iron chelator deferiprone (L1).

Authors:  V Berdoukas; T Bohane; C Eagle; R Lindeman; K DeSilva; V Tobias; D Painter; I Fraser
Journal:  Transfus Sci       Date:  2000-12

Review 2.  Maturation of cellular Fe-S proteins: an essential function of mitochondria.

Authors:  R Lill; G Kispal
Journal:  Trends Biochem Sci       Date:  2000-08       Impact factor: 13.807

3.  Design, synthesis, and evaluation of novel 2-substituted 3-hydroxypyridin-4-ones: structure-activity investigation of metalloenzyme inhibition by iron chelators.

Authors:  Zu D Liu; Reem Kayyali; Robert C Hider; John B Porter; Anthony E Theobald
Journal:  J Med Chem       Date:  2002-01-31       Impact factor: 7.446

Review 4.  Antioxidants as treatment for neurodegenerative disorders.

Authors:  Bernd Moosmann; Christian Behl
Journal:  Expert Opin Investig Drugs       Date:  2002-10       Impact factor: 6.206

Review 5.  Molecular pathogenesis of Friedreich ataxia.

Authors:  M Pandolfo
Journal:  Arch Neurol       Date:  1999-10

6.  The ferroxidase activity of yeast frataxin.

Authors:  Sungjo Park; Oleksandr Gakh; Steven M Mooney; Grazia Isaya
Journal:  J Biol Chem       Date:  2002-07-30       Impact factor: 5.157

7.  Beneficial effect of idebenone (CV-2619) on cerebral ischemia-induced amnesia in rats.

Authors:  N Yamazaki; Y Take; A Nagaoka; Y Nagawa
Journal:  Jpn J Pharmacol       Date:  1984-11

8.  The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases.

Authors:  J B Lamarche; M Côté; B Lemieux
Journal:  Can J Neurol Sci       Date:  1980-11       Impact factor: 2.104

9.  The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

Authors:  L Montermini; E Andermann; M Labuda; A Richter; M Pandolfo; F Cavalcanti; L Pianese; L Iodice; G Farina; A Monticelli; M Turano; A Filla; G De Michele; S Cocozza
Journal:  Hum Mol Genet       Date:  1997-08       Impact factor: 6.150

10.  Mitochondria-targeted antioxidants protect Friedreich Ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants.

Authors:  Matthias L Jauslin; Thomas Meier; Robin A J Smith; Michael P Murphy
Journal:  FASEB J       Date:  2003-08-15       Impact factor: 5.191
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  15 in total

1.  Utilisation of advance motor information is impaired in Friedreich ataxia.

Authors:  Louise A Corben; Martin B Delatycki; John L Bradshaw; Andrew J Churchyard; Nellie Georgiou-Karistianis
Journal:  Cerebellum       Date:  2011-12       Impact factor: 3.847

2.  GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.

Authors:  Sahar Al-Mahdawi; Ricardo Mouro Pinto; Dhaval Varshney; Lorraine Lawrence; Margaret B Lowrie; Sian Hughes; Zoe Webster; Julian Blake; J Mark Cooper; Rosalind King; Mark A Pook
Journal:  Genomics       Date:  2006-08-17       Impact factor: 5.736

3.  How is disease progress in Friedreich's ataxia best measured? A study of four rating scales.

Authors:  M C Fahey; L Corben; V Collins; A J Churchyard; M B Delatycki
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-10-20       Impact factor: 10.154

4.  Ocular motor fixation deficits in Friedreich ataxia.

Authors:  Darren R Hocking; Joanne Fielding; Louise A Corben; Phillip D Cremer; Lynette Millist; Owen B White; Martin B Delatycki
Journal:  Cerebellum       Date:  2010-09       Impact factor: 3.847

5.  Auditory processing deficits in children with Friedreich ataxia.

Authors:  Gary Rance; Louise Corben; Martin Delatycki
Journal:  J Child Neurol       Date:  2012-06-29       Impact factor: 1.987

6.  Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction.

Authors:  Louise A Corben; Martin B Delatycki; John L Bradshaw; Malcolm K Horne; Michael C Fahey; Andrew J Churchyard; Nellie Georgiou-Karistianis
Journal:  J Neurol       Date:  2009-12-03       Impact factor: 4.849

7.  Investigating the Clinical Significance and Research Discrepancies of Balance Training in Degenerative Cerebellar Disease: A Systematic Review.

Authors:  Scott Barbuto; Sheng-Han Kuo; Joel Stein
Journal:  Am J Phys Med Rehabil       Date:  2020-11       Impact factor: 2.159

Review 8.  Evaluating the progression of Friedreich ataxia and its treatment.

Authors:  Martin B Delatycki
Journal:  J Neurol       Date:  2009-03       Impact factor: 4.849

9.  Phosphorus-31 two-dimensional chemical shift imaging in the myocardium of patients with late onset of Friedreich ataxia.

Authors:  Christian Wolf; Sylvia Boesch; Bernhard Metzler; Helga Weirich-Schwaiger; Thomas Trieb; Michael F H Schocke
Journal:  Mol Imaging Biol       Date:  2007-11-14       Impact factor: 3.488

Review 10.  Therapeutic developments in Friedreich ataxia.

Authors:  Robert B Wilson
Journal:  J Child Neurol       Date:  2012-07-12       Impact factor: 1.987
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