Research & Literature

Friedreich ataxia in Norway - an epidemiological, molecular and clinical study.

Wedding IM, Kroken M, Henriksen SP, et al.

Orphanet journal of rare diseases 2015; (10()):108 doi:10.1186/s13023-015-0328-4.

Friedreich Ataxia: From the Eye of a Molecular Biologist.

Muthuswamy S, Agarwal S

The neurologist 2015; (20(3)):51-5 doi:10.1097/NRL.0000000000000054.

Delayed-onset Friedreich's ataxia revisited.

Lecocq C, Charles P, Azulay JP, et al.

Movement disorders : official journal of the Movement Disorder Society 2016; (31(1)):62-9 doi:10.1002/mds.26382.

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.

Pousset F, Legrand L, Monin ML, et al.

JAMA neurology 2015; (72(11)):1334-41 doi:10.1001/jamaneurol.2015.1855.

Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor.

Chutake YK, Lam CC, Costello WN, et al.

Nucleic acids research 2016; (44(11)):5095-104 doi:10.1093/nar/gkw107.

Voice in Friedreich Ataxia.

Vogel AP, Wardrop MI, Folker JE, et al.

Journal of voice : official journal of the Voice Foundation 2017; (31(2)):243.e9-243.e19 doi:10.1016/j.jvoice.2016.04.015.

Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?

Salomão RPA, Gama MTD, Rezende Filho FM, et al.

Cerebellum (London, England) 2017; (16(2)):599-601 doi:10.1007/s12311-016-0822-9.

Dysphagia in Friedreich Ataxia.

Keage MJ, Delatycki MB, Gupta I, et al.

Dysphagia 2017; (32(5)):626-635 doi:10.1007/s00455-017-9804-4.

Impact of diabetes in the Friedreich ataxia clinical outcome measures study.

McCormick A, Farmer J, Perlman S, et al.

Annals of clinical and translational neurology 2017; (4(9)):622-631 doi:10.1002/acn3.439.

Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial?

Milne SC, Corben LA, Roberts M, et al.

Clinical rehabilitation 2018; (32(5)):630-643 doi:10.1177/0269215517736903.

Longitudinal analysis of contrast acuity in Friedreich ataxia.

Hamedani AG, Hauser LA, Perlman S, et al.

Neurology. Genetics 2018; (4(4)):e250 doi:10.1212/NXG.0000000000000250.

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

Reetz K, Dogan I, Hohenfeld C, et al.

Neurology 2018; (91(10)):e917-e930 doi:10.1212/WNL.0000000000006121.

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.

Al-Mahdawi S, Ging H, Bayot A, et al.

Frontiers in cellular neuroscience 2018; (12()):443 doi:10.3389/fncel.2018.00443.

Therapeutic Prospects for Friedreich's Ataxia.

Zhang S, Napierala M, Napierala JS

Trends in pharmacological sciences 2019; (40(4)):229-233 doi:10.1016/j.tips.2019.02.001.

Demographic and clinical features and rehabilitation outcomes of patients with Friedreich ataxia: A retrospective study.

Doğan-Aslan M, Büyükvural-Şen S, Nakipoğlu-Yüzer GF, Özgirgin N

Turkish journal of physical medicine and rehabilitation 2018; (64(3)):230-238 doi:10.5606/tftrd.2018.2213.

Very-late-onset Friedreich's ataxia: diagnosis in a kindred with late-onset cerebellar ataxia.

Fearon C, Lonergan R, Ferguson D, et al.

Practical neurology 2020; (20(1)):55-58 doi:10.1136/practneurol-2019-002368.

Predictors of loss of ambulation in Friedreich's ataxia.

Rummey C, Farmer JM, Lynch DR

EClinicalMedicine 2020; (18()):100213 doi:10.1016/j.eclinm.2019.11.006.

Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort.

Pandolfo M

Neurology. Genetics 2020; (6(3)):e415 doi:10.1212/NXG.0000000000000415.

Onset features and time to diagnosis in Friedreich's Ataxia.

Indelicato E, Nachbauer W, Eigentler A, et al.

Orphanet journal of rare diseases 2020; (15(1)):198 doi:10.1186/s13023-020-01475-9.

Test-retest reliability of the Friedreich's ataxia rating scale.

Rummey C, Zesiewicz TA, Perez-Lloret S, et al.

Annals of clinical and translational neurology 2020; (7(9)):1708-1712 doi:10.1002/acn3.51118.

Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).

Lynch DR, Chin MP, Delatycki MB, et al.

Annals of neurology 2021; (89(2)):212-225 doi:10.1002/ana.25934.

An Overview of the Ferroptosis Hallmarks in Friedreich's Ataxia.

Turchi R, Faraonio R, Lettieri-Barbato D, Aquilano K

Biomolecules 2020; (10(11)) doi:10.3390/biom10111489.

All's not well with the "worried well": understanding health anxiety due to COVID-19.

Kini G, Karkal R, Bhargava M

Journal of preventive medicine and hygiene 2020; (61(3)):E321-E323 doi:10.15167/2421-4248/jpmh2020.61.3.1605.

Auditory Phenotypic Variability in Friedreich's Ataxia Patients.

Koohi N, Thomas-Black G, Giunti P, Bamiou DE

Cerebellum (London, England) 2021; (20(4)):497-508 doi:10.1007/s12311-021-01236-9.

Future Prospects of Gene Therapy for Friedreich's Ataxia.

Ocana-Santero G, Díaz-Nido J, Herranz-Martín S

International journal of molecular sciences 2021; (22(4)) doi:10.3390/ijms22041815.

Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.

Rummey C, Flynn JM, Corben LA, et al.

Annals of clinical and translational neurology 2021; (8(6)):1239-1250 doi:10.1002/acn3.51352.

Drp1-dependent peptide reverse mitochondrial fragmentation, a homeostatic response in Friedreich ataxia.

Johnson J, Mercado-Ayón E, Clark E, et al.

Pharmacology research & perspectives 2021; (9(3)):e00755 doi:10.1002/prp2.755.

The cardiomyopathy of Friedreich's ataxia common in a family: A case report.

Amini O, Lakziyan R, Abavisani M, Sarchahi Z

Annals of medicine and surgery (2012) 2021; (66()):102408 doi:10.1016/j.amsu.2021.102408.

Friedreich Ataxia: Multidisciplinary Clinical Care.

Lynch DR, Schadt K, Kichula E, et al.

Journal of multidisciplinary healthcare 2021; (14()):1645-1658 doi:10.2147/JMDH.S292945.

Very late-onset Friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type.

Vidhale TA, Gupta HR, Pj R, Gandhi C

BMJ case reports 2021; (14(7)) doi:10.1136/bcr-2021-242073.

Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video.

Tai G, Corben LA, Woodcock IR, et al.

Movement disorders clinical practice 2021; (8(5)):688-693 doi:10.1002/mdc3.13204.

Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study.

Legrand L, Weinsaft JW, Pousset F, et al.

Archives of cardiovascular diseases 2022; (115(1)):17-28 doi:10.1016/j.acvd.2021.10.010.

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients.

Brown AF, Parkinson MH, Garcia-Moreno H, et al.

Frontiers in neurology 2021; (12()):736253 doi:10.3389/fneur.2021.736253.

Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin.

Puglisi R

Biomedicines 2022; (10(2)) doi:10.3390/biomedicines10020425.

Friedreich's Ataxia related Diabetes: Epidemiology and management practices.

Tamaroff J, DeDio A, Wade K, et al.

Diabetes research and clinical practice 2022; (186()):109828 doi:10.1016/j.diabres.2022.109828.

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

Chen J, Zhao Z, Shen H, et al.

BMC neurology 2022; (22(1)):180 doi:10.1186/s12883-022-02708-z.

Variable effects of omaveloxolone (RTA408) on primary fibroblasts with mitochondrial defects.

Zighan M, Arkadir D, Douiev L, et al.

Frontiers in molecular biosciences 2022; (9()):890653 doi:10.3389/fmolb.2022.890653.

Ataxia due to vitamin E deficiency: A case report and updated review.

Thapa S, Shah S, Chand S, et al.

Clinical case reports 2022; (10(9)):e6303 doi:10.1002/ccr3.6303.

Patient-Reported Impact of Symptoms in Friedreich Ataxia.

Seabury J, Alexandrou D, Dilek N, et al.

Neurology 2023; (100(8)):e808-e821 doi:10.1212/WNL.0000000000201598.

Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.

Lynch DR, Chin MP, Boesch S, et al.

Movement disorders : official journal of the Movement Disorder Society 2023; (38(2)):313-320 doi:10.1002/mds.29286.

Coping With 'Scanxiety': Within-Person Processes in Lung Cancer.

Dunsmore VJ, Neupert SD

Psychological reports 2025; (128(2)):702-722 doi:10.1177/00332941231164336.

Omaveloxolone: First Approval.

Lee A

Drugs 2023; (83(8)):725-729 doi:10.1007/s40265-023-01874-9.

The Therapeutic Potential of Targeting Ferroptosis in the Treatment of Mitochondrial Cardiomyopathies and Heart Failure.

Cantrell AC, Zeng H, Chen JX

Journal of cardiovascular pharmacology 2024; (83(1)):23-32 doi:10.1097/FJC.0000000000001496.

Management of Friedreich Ataxia-Associated Cardiomyopathy in Pregnancy: A Review of the Literature.

Peterson AN, Hickerson LC, Pschirrer ER, et al.

The American journal of cardiology 2024; (210()):118-129 doi:10.1016/j.amjcard.2023.10.019.

Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.

Doni D, Cavion F, Bortolus M, et al.

Cell death & disease 2023; (14(12)):805 doi:10.1038/s41419-023-06320-y.

Scanxiety and quality of life around follow-up imaging in patients with unruptured intracranial aneurysms: a prospective cohort study.

Kamphuis MJ, van der Kamp LT, van Eijk RPA, et al.

European radiology 2024; (34(9)):6018-6025 doi:10.1007/s00330-024-10602-0.

Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene.

Ahmad I, Kapoor H, Srivastava AK, Faruq M

Stem cell research 2024; (76()):103340 doi:10.1016/j.scr.2024.103340.

Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia.

Lynch DR, Subramony S, Lin KY, et al.

Pediatric cardiology 2025; (46(2)):379-382 doi:10.1007/s00246-024-03429-5.

Perioperative management and outcomes for posterior spinal fusion in patients with Friedreich ataxia: A single-center, retrospective study.

O'Brien EM, Neiswinter N, Lin KY, et al.

Paediatric anaesthesia 2024; (34(7)):654-661 doi:10.1111/pan.14896.

Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics.

Mahale R, Purushottam M, Singh R, et al.

Annals of Indian Academy of Neurology 2024; (27(2)):152-157 doi:10.4103/aian.aian_1001_23.

The importance of synthetic pharmacotherapy for recessive cerebellar ataxias.

Beaudin M, Dupre N, Manto M

Expert review of neurotherapeutics 2024; (24(9)):897-912 doi:10.1080/14737175.2024.2376840.

Poincaré plot analysis of electrocardiogram uncovers beneficial effects of omaveloxolone in a mouse model of Friedreich's ataxia.

Figueroa F, Salinas L, Thai PN, et al.

Heart rhythm 2025; (22(7)):1829-1842 doi:10.1016/j.hrthm.2024.12.041.

Clinical Assessment of the Drug-Drug Interaction Potential of Omaveloxolone in Healthy Adult Participants.

Zahir H, Murai M, Wu L, et al.

Journal of clinical pharmacology 2025; (65(6)):715-730 doi:10.1002/jcph.6189.

A global perspective on research advances and future challenges in Friedreich ataxia.

Indelicato E, Delatycki MB, Farmer J, et al.

Nature reviews. Neurology 2025; (21(4)):204-215 doi:10.1038/s41582-025-01065-y.

Early onset development of hypertrophic cardiomyopathy in less than 1 year in a patient with familial Friedrich's ataxia: Case report.

Ouaddouh Y, Bouyaddid S, Bazid Z, et al.

Radiology case reports 2025; (20(6)):3016-3020 doi:10.1016/j.radcr.2025.03.001.

Safety Monitoring of Omaveloxolone in Friedreich Ataxia: Results from One Year of Clinical Treatment.

Gunther K, Profeta V, Keita M, et al.

Neurology and therapy 2025; (14(3)):1105-1114 doi:10.1007/s40120-025-00749-3.

Characteristics of Adverse Events and Clinical Risks of Omaveloxolone Based on FAERS Data.

Liu H, Fan D, Tao H, et al.

Cerebellum (London, England) 2025; (24(4)):119 doi:10.1007/s12311-025-01873-4.

Friedreich's ataxia-a rare multisystem disease.

Reetz K, Lischewski SA, Dogan I, et al.

The Lancet. Neurology 2025; (24(7)):614-624 doi:10.1016/S1474-4422(25)00175-9.

Genetic and Phenotypic Variability in Siblings With Friedreich Ataxia.

Eshaghi K, Rao PH, Shen MM, Lynch DR

Neurology. Genetics 2025; (11(1)):e200234 doi:10.1212/NXG.0000000000200234.

Friedreich's Ataxia in Colombia: A Population-Based Study of Incidence and Socioeconomic Determinants.

Correa-Arrieta C, Castellar-Leones S, Ruiz-Ospina E, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(12)):2782-2791 doi:10.1002/mds.70033.

Prevalence, severity, and modifiable predictors of scanxiety in patients undergoing routine oncologic imaging: a prospective longitudinal study.

Shah MS, Memon JA, Malik U, et al.

Clinical imaging 2025; (128()):110634 doi:10.1016/j.clinimag.2025.110634.

Friedreich Ataxia.

Subramony SH, Lynch DR

Pediatric neurology 2026; (174()):148-154 doi:10.1016/j.pediatrneurol.2025.10.020.

"You Always Worry": Scan-Related Anxiety Among Patients With Metastatic Lung Cancer.

Derry-Vick H, Prigerson HG, Hahne J, et al.

Journal of the American College of Radiology : JACR 2025; (22(12)):1572-1577 doi:10.1016/j.jacr.2025.08.021.

Respiratory Function in Friedreich's Ataxia.

Viana CF, Jaques CS, Bezerra MLE, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; (41(4)):921-927 doi:10.1002/mds.70162.

Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia.

Devore MC, Lam C, Wiley G, et al.

Human molecular genetics 2026; (35(3)) doi:10.1093/hmg/ddaf190.