eprintid: 10025895
rev_number: 28
eprint_status: archive
userid: 608
dir: disk0/10/02/58/95
datestamp: 2017-10-24 11:58:56
lastmod: 2021-10-17 23:42:01
status_changed: 2018-06-07 13:16:12
type: article
metadata_visibility: show
creators_name: Giunti, P
creators_name: Cook, A
title: Friedreich's ataxia: clinical features, pathogenesis and management
ispublished: pub
divisions: UCL
divisions: B02
divisions: C07
divisions: D07
divisions: F84
keywords: Friedreich’s ataxia, epigenetics, antioxidants
note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
abstract: Introduction: Friedreich’s ataxia is the most common inherited ataxia. / Sources of data: Literature search using PubMed with keywords Friedreich’s ataxia together with published papers known to the authors. / Areas of agreement: The last decade has seen important advances in our understanding of the pathogenesis of disease. In particular, the genetic and epigenetic mechanisms underlying the disease now offer promising novel therapeutic targets. / Areas of controversy: The search for effective disease-modifying agents continues. It remains to be determined whether the most effective approach to treatment lies with increasing frataxin protein levels or addressing the metabolic consequences of the disease, for example with antioxidants. / Areas timely for developing research: Management of Freidreich’s ataxia is currently focussed on symptomatic management, delivered by the multidisciplinary team. Phase II clinical trials in agents that address the abberrant silencing of the frataxin gene need to be translated into large placebo-controlled Phase III trials to help establish their therapeutic potential.
date: 2017-10-25
date_type: published
official_url: http://dx.doi.org/10.1093/bmb/ldx034
oa_status: green
full_text_type: other
language: eng
primo: open
primo_central: open_green
verified: verified_manual
elements_id: 1473133
doi: 10.1093/bmb/ldx034
lyricists_name: Giunti, Paola
lyricists_id: PGIUN65
actors_name: Allington-Smith, Dominic
actors_id: DAALL44
actors_role: owner
full_text_status: public
publication: British Medical Bulletin
volume: 124
number: 1
pagerange: 19-30
citation:        Giunti, P;    Cook, A;      (2017)    Friedreich's ataxia: clinical features, pathogenesis and management.                   British Medical Bulletin , 124  (1)   pp. 19-30.    10.1093/bmb/ldx034 <https://doi.org/10.1093/bmb%2Fldx034>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10025895/1/Giunti_BMBRevisionFinal2.pdf