Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med. 1996;335(16):1169–75.

Article  CAS  PubMed  Google Scholar 

Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271(5254):1423–7.

Article  CAS  PubMed  Google Scholar 

Koeppen AH. Friedreich’s ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci. 2011;303(1–2):1–12.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Harding AE. Friedreich’s ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain : a journal of neurology. 1981;104(3):589–620.

Article  CAS  PubMed  Google Scholar 

Rummey C, Farmer JM, Lynch DR. Predictors of loss of ambulation in Friedreich’s ataxia. EClinicalMedicine. 2020;18:100213.

Article  PubMed  PubMed Central  Google Scholar 

Pousset F, Legrand L, Monin ML, Ewenczyk C, Charles P, Komajda M, et al. A 22-year follow-up study of long-term cardiac outcome and predictors of survival in Friedreich ataxia. JAMA Neurol. 2015;72(11):1334–41.

Article  PubMed  Google Scholar 

Administration. UFD. FDA approves first treatment for Friedreich’s ataxia 02/28/2023 [Available from: https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-treatment-friedreichs-ataxia.

Lynch DR, Farmer J, Hauser L, Blair IA, Wang QQ, Mesaros C, et al. Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia. Annal Clin Transl Neurol. 2019;6(1):15–26.

Article  CAS  Google Scholar 

Soragni E, Miao W, Iudicello M, Jacoby D, De Mercanti S, Clerico M, et al. Epigenetic therapy for Friedreich ataxia. Ann Neurol. 2014;76(4):489–508.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gavriilaki M, Moschou M, Papaliagkas V, Notas K, Chatzikyriakou E, Zafeiridou G, et al. Biomarkers of disease progression in adolescents and adults with 5q spinal muscular atrophy: a systematic review and meta-analysis. Neuromuscular Dis : NMD. 2022;32(3):185–94.

Article  Google Scholar 

Gavriilaki M, Moschou M, Papaliagkas V, Notas K, Chatzikyriakou E, Papagiannopoulos S, et al. Nusinersen in adults with 5q spinal muscular atrophy: a systematic review and meta-analysis. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2022;19(2):464–75.

Article  CAS  PubMed  Google Scholar 

Pandolfo M. Neurologic outcomes in Friedreich ataxia: study of a single-site cohort. Neurol Genet. 2020;6(3):e415.

Article  PubMed  PubMed Central  Google Scholar 

Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, et al. Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study. Lancet Neurol. 2021;20(5):362–72.

Article  PubMed  Google Scholar 

Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ. 2021;372:n71.

Article  PubMed  PubMed Central  Google Scholar 

Abu-Zidan FM, Abbas AK, Hefny AF. Clinical “case series”: a concept analysis. Afr Health Sci. 2012;12(4):557–62.

CAS  PubMed  PubMed Central  Google Scholar 

Gavriilaki M, Mainou M, Gavriilaki E, Haidich AB, Papagiannopoulos S, Sakellari I, et al. Neurologic complications after allogeneic transplantation: a meta-analysis. Ann Clin Transl Neurol. 2019;6(10):2037–47.

Article  PubMed  PubMed Central  Google Scholar 

Shi J, Luo D, Weng H, Zeng XT, Lin L, Chu H, et al. Optimally estimating the sample standard deviation from the five-number summary. Res Synth Methods. 2020;11(5):641–54.

Article  PubMed  Google Scholar 

Murad MH, Sultan S, Haffar S, Bazerbachi F. Methodological quality and synthesis of case series and case reports. BMJ Evidence-Based Med. 2018;23(2):60–3.

Article  Google Scholar 

Higgins JP, Altman DG, Gotzsche PC, Juni P, Moher D, Oxman AD, et al. The Cochrane Collaboration’s tool for assessing risk of bias in randomised trials. BMJ. 2011;343:d5928.

Article  PubMed  PubMed Central  Google Scholar 

Cook DA, Reed DA. Appraising the quality of medical education research methods: the Medical Education Research Study Quality Instrument and the Newcastle-Ottawa Scale-Education. Acad Med : journal of the Association of American Medical Colleges. 2015;90(8):1067–76.

Article  Google Scholar 

ROBINS-E Development Group (Higgins J MR, Rooney A, Taylor K, Thayer K, Silva R, Lemeris C, Akl A, Arroyave W, Bateson T, Berkman N, Demers P, Forastiere F, Glenn B, Hróbjartsson A, Kirrane E, LaKind J, Luben T, Lunn R, McAleenan A, McGuinness L, Meerpohl J, Mehta S, Nachman R, Obbagy J, O'Connor A, Radke E, Savović J, Schubauer-Berigan M, Schwingl P, Schunemann H, Shea B, Steenland K, Stewart T, Straif K, Tilling K, Verbeek V, Vermeulen R, Viswanathan M, Zahm S, Sterne J). Risk Of Bias In Non-randomized Studies - of Exposure (ROBINS-E). Launch version, 1 June 2022. [Available from: https://www.riskofbias.info/welcome/robins-e-tool.

Balshem H, Helfand M, Schunemann HJ, Oxman AD, Kunz R, Brozek J, et al. GRADE guidelines: 3. Rating the quality of evidence. J Clin Epidemiol. 2011;64(4):401–6.

Article  PubMed  Google Scholar 

Alliance FsAR. Friedreich's Ataxia Treatment Pipeline [Available from: https://www.curefa.org/research/research-pipeline#.

Higgins JP, Thompson SG, Deeks JJ, Altman DG. Measuring inconsistency in meta-analyses. BMJ. 2003;327(7414):557–60.

Article  PubMed  PubMed Central  Google Scholar 

Egger M, Davey Smith G, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ. 1997;315(7109):629–34.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Arpa J, Sanz-Gallego I, Rodríguez-de-Rivera FJ, Domínguez-Melcón FJ, Prefasi D, Oliva-Navarro J, et al. Triple therapy with deferiprone, idebenone and riboflavin in Friedreich’s ataxia - open-label trial. Acta Neurol Scand. 2014;129(1):32–40.

Article  CAS  PubMed  Google Scholar 

Artuch R, Aracil A, Mas A, Colomé C, Rissech M, Monrós E, et al. Friedreich’s ataxia: Idebenone treatment in early stage patients. Neuropediatrics. 2002;33(4):190–3.

Article  CAS  PubMed  Google Scholar 

Boddaert N, Sang KHLQ, Rötig A, Leroy-Willig A, Gallet S, Brunelle F, et al. Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood. 2007;110(1):401–8.

Article  CAS  PubMed  Google Scholar 

Brandsema JF, Yoon G, Stephens D, Hartley J. Intermediate-dose idebenone and quality of life in Friedreich ataxia. Can J Neurol Sci. 2010;37(3):S70.

Google Scholar 

Buyse G, Mertens L, Di Salvo G, Matthijs I, Weidemann F, Eyskens B, et al. Idebenone treatment in Friedreich’s ataxia: neurological, cardiac, and biochemical monitoring. Neurology. 2003;60(10):1679–81.

Article  CAS  PubMed  Google Scholar 

Cook A, Boesch S, Heck S, Brunt E, Klockgether T, Schöls L, et al. Patient-reported outcomes in Friedreich’s ataxia after withdrawal from idebenone. Acta Neurol Scand. 2019;139(6):533–9.

Article  CAS  PubMed  Google Scholar 

Cooper JM, Korlipara LVP, Hart PE, Bradley JL, Schapira AHV. Coenzyme Q10 and vitamin e deficiency in Friedreich’s ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy. Eur J Neurol. 2008;15(12):1371–9.

Article  CAS  PubMed  Google Scholar 

Hart PE, Lodi R, Rajagopalan B, Bradley JL, Crilley JG, Turner C, et al. Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up. Arch Neurol. 2005;62(4):621–6.

Article  PubMed  Google Scholar 

Lodi R, Hart PE, Rajagopalan B, Taylor DJ, Crilley JG, Bradley JL, et al. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich’s ataxia. Ann Neurol. 2001;49(5):590–6.

Article  CAS  PubMed  Google Scholar 

Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreich’s ataxia: a randomised, placebo-controlled trial. The Lancet Neurology. 2007;6(10):878–86.

Article  PubMed  Google Scholar 

Drinkard BE, Keyser RE, Paul SM, Arena R, Plehn JF, Yanovski JA, et al. Exercise capacity and idebenone intervention in children and adolescents with Friedreich ataxia. Arch Phys Med Rehabil. 2010;91(7):1044–50.

Article  PubMed  PubMed Central  Google Scholar 

Elincx-Benizri S, Glik A, Merkel D, Arad M, Freimark D, Kozlova E, et al. Clinical experience with deferiprone treatment for Friedreich ataxia. J Child Neurol. 2016;31(8):1036–40.

Article  PubMed  Google Scholar 

Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rötig A, et al. Idebenone and reduced cardiac hypertrophy in Friedreich’s ataxia. Heart (British Cardiac Society). 2002;87(4):346–9.

Article  CAS  PubMed  Google Scholar 

Lynch DR, Chin MP, Delatycki MB, Subramony SH. Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe Study). 2021;89(2):212-25

Lynch DR, Chin MP, Boesch S, Delatycki MB, Giunti P, Goldsberry A, et al. Efficacy of omaveloxolone in Friedreich’s ataxia: delayed-start analysis of the MOXIe Extension. Mov Disord. 2023;38(2):313–20.

Article  CAS  PubMed  Google Scholar