Research & Literature

Ataxia with vitamin e deficiency in norway.

Elkamil A, Johansen KK, Aasly J

Journal of movement disorders 2015; (8(1)):33-6 doi:10.14802/jmd.14030.

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

Hamza W, Ali Pacha L, Hamadouche T, et al.

BMC medical genetics 2015; (16()):36 doi:10.1186/s12881-015-0180-3.

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia.

Bhatt JM, Bush A, van Gerven M, et al.

European respiratory review : an official journal of the European Respiratory Society 2015; (24(138)):565-81 doi:10.1183/16000617.0066-2015.

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

Rydning SL, Wedding IM, Koht J, et al.

European journal of neurology 2016; (23(4)):763-71 doi:10.1111/ene.12937.

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.

Pearson TS

Tremor and other hyperkinetic movements (New York, N.Y.) 2016; (6()):368 doi:10.7916/D8H70FSS.

Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit.

Ahrens-Nicklas RC, Khan S, Garbarini J, et al.

American journal of medical genetics. Part A 2016; (170(12)):3090-3097 doi:10.1002/ajmg.a.37891.

Ataxia-telangiectasia: recommendations for multidisciplinary treatment.

van Os NJH, Haaxma CA, van der Flier M, et al.

Developmental medicine and child neurology 2017; (59(7)):680-689 doi:10.1111/dmcn.13424.

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.

Autosomal-recessive cerebellar ataxias.

Fogel BL

Handbook of clinical neurology 2018; (147()):187-209 doi:10.1016/B978-0-444-63233-3.00013-0.

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

Córdoba M, Rodriguez-Quiroga SA, Vega PA, et al.

PloS one 2018; (13(2)):e0191228 doi:10.1371/journal.pone.0191228.

The experience of patients participating in a small randomised control trial that explored two different interventions to reduce anxiety prior to an MRI scan.

Tugwell-Allsup J, Pritchard AW

Radiography (London, England : 1995) 2018; (24(2)):130-136 doi:10.1016/j.radi.2017.11.001.

Spastic ataxias.

Bereznyakova O, Dupré N

Handbook of clinical neurology 2018; (155()):191-203 doi:10.1016/B978-0-444-64189-2.00012-3.

Recessive ataxias.

Synofzik M, Németh AH

Handbook of clinical neurology 2018; (155()):73-89 doi:10.1016/B978-0-444-64189-2.00005-6.

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Krygier M, Kwarciany M, Wasilewska K, et al.

Clinical genetics 2019; (95(3)):415-419 doi:10.1111/cge.13489.

Heart disease in Friedreich's ataxia.

Hanson E, Sheldon M, Pacheco B, et al.

World journal of cardiology 2019; (11(1)):1-12 doi:10.4330/wjc.v11.i1.1.

Guidelines on the diagnosis and management of the progressive ataxias.

de Silva R, Greenfield J, Cook A, et al.

Orphanet journal of rare diseases 2019; (14(1)):51 doi:10.1186/s13023-019-1013-9.

Degenerative and acquired sporadic adult onset ataxia.

Lieto M, Roca A, Santorelli FM, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019; (40(7)):1335-1342 doi:10.1007/s10072-019-03856-w.

Prevalence and predictive factors of psychological morbidity following facial injury: a prospective study of patients attending a maxillofacial outpatient clinic within a major UK city.

Wilson N, Heke S, Holmes S, et al.

Dialogues in clinical neuroscience 2018; (20(4)):327-339.

Eye Movement Abnormalities Are Ubiquitous in the Spinocerebellar Ataxias.

Stephen CD, Schmahmann JD

Cerebellum (London, England) 2019; (18(6)):1130-1136 doi:10.1007/s12311-019-01044-2.

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.

Beaudin M, Matilla-Dueñas A, Soong BW, et al.

Cerebellum (London, England) 2019; (18(6)):1098-1125 doi:10.1007/s12311-019-01052-2.

Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.

Paucar M, Taylor AMR, Hadjivassiliou M, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2019; (9()) doi:10.7916/tohm.v0.708.

SEOM clinical guideline on hereditary colorectal cancer (2019).

Guillén-Ponce C, Lastra E, Lorenzo-Lorenzo I, et al.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2020; (22(2)):201-212 doi:10.1007/s12094-019-02272-y.

The neurological update: therapies for cerebellar ataxias in 2020.

Gandini J, Manto M, Bremova-Ertl T, et al.

Journal of neurology 2020; (267(4)):1211-1220 doi:10.1007/s00415-020-09717-3.

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.

Beecroft SJ, Lamont PJ, Edwards S, et al.

Molecular diagnosis & therapy 2020; (24(6)):641-652 doi:10.1007/s40291-020-00495-2.

Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population.

Incecik F, Herguner OM, Mungan NO

Journal of pediatric neurosciences 2020; (15(2)):86-89 doi:10.4103/jpn.JPN_145_18.

Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker.

Renaud M, Tranchant C, Koenig M, Anheim M

Movement disorders : official journal of the Movement Disorder Society 2020; (35(12)):2139-2149 doi:10.1002/mds.28307.

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.

Bone Marrow Transplantation as Therapy for Ataxia-Telangiectasia: A Systematic Review.

Sabino Pinho de Oliveira B, Putti S, Naro F, Pellegrini M

Cancers 2020; (12(11)) doi:10.3390/cancers12113207.

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.

Stefanski A, Calle-López Y, Leu C, et al.

Epilepsia 2021; (62(1)):143-151 doi:10.1111/epi.16755.

Omaveloxolone: potential new agent for Friedreich ataxia.

Lynch DR, Johnson J

Neurodegenerative disease management 2021; (11(2)):91-98 doi:10.2217/nmt-2020-0057.

Clinical complications and their management in a child with ataxia-telangiectasia (A-T): A case report study.

Heidarzadeh Arani M, ArefNezhad R, Fathgharib J, et al.

Clinical case reports 2021; (9(1)):556-559 doi:10.1002/ccr3.3581.

The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.

Amirifar P, Ranjouri MR, Pashangzadeh S, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021; (32(6)):1316-1326 doi:10.1111/pai.13461.

Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient.

Valentina Castillo J, Catherine Díaz S, Bustamante ML, et al.

Cerebellum (London, England) 2021; (20(6)):938-941 doi:10.1007/s12311-021-01250-x.

Oncologically Relevant Findings Reporting and Data System (ONCO-RADS): Guidelines for the Acquisition, Interpretation, and Reporting of Whole-Body MRI for Cancer Screening.

Petralia G, Koh DM, Attariwala R, et al.

Radiology 2021; (299(3)):494-507 doi:10.1148/radiol.2021201740.

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.

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.

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.

Traschütz A, Reich S, Adarmes AD, et al.

Frontiers in neurology 2021; (12()):677551 doi:10.3389/fneur.2021.677551.

Neuro-Ophthalmological Findings in Friedreich's Ataxia.

Rojas P, de Hoz R, Cadena M, et al.

Journal of personalized medicine 2021; (11(8)) doi:10.3390/jpm11080708.

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.

Zielen S, Duecker RP, Woelke S, et al.

Journal of clinical immunology 2021; (41(8)):1878-1892 doi:10.1007/s10875-021-01090-8.

Three Adult-Onset Autosomal Recessive Ataxias: What Adult Neurologists Need to Know.

Paulus-Andres JA, Burnett MS

Neurology. Clinical practice 2021; (11(3)):256-262 doi:10.1212/CPJ.0000000000000947.

Cancer in Children With Fanconi Anemia and Ataxia-Telangiectasia-A Nationwide Register-Based Cohort Study in Germany.

Dutzmann CM, Spix C, Popp I, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022; (40(1)):32-39 doi:10.1200/JCO.21.01495.

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

Cheng HL, Shao YR, Dong Y, et al.

Translational neurodegeneration 2021; (10(1)):40 doi:10.1186/s40035-021-00264-z.

Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia.

Monda E, Lioncino M, Rubino M, et al.

Heart failure clinics 2022; (18(1)):31-37 doi:10.1016/j.hfc.2021.07.001.

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.

Çakar A, İnci M, Özdağ Acarlı AN, et al.

Acta neurologica Scandinavica 2022; (145(5)):619-626 doi:10.1111/ane.13592.

Rehabilitation in patients with cerebellar ataxias.

Chien HF, Zonta MB, Chen J, et al.

Arquivos de neuro-psiquiatria 2022; (80(3)):306-315 doi:10.1590/0004-282X-ANP-2021-0065.

Bone Mineral Density and Current Bone Health Screening Practices in Friedreich's Ataxia.

Dunn J, Tamaroff J, DeDio A, et al.

Frontiers in neuroscience 2022; (16()):818750 doi:10.3389/fnins.2022.818750.

Friedreich ataxia: clinical features and new developments.

Keita M, McIntyre K, Rodden LN, et al.

Neurodegenerative disease management 2022; (12(5)):267-283 doi:10.2217/nmt-2022-0011.

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.

Effects of a 360° virtual counselling environment on patient anxiety and CCTA process time: A randomised controlled trial.

Paalimäki-Paakki K, Virtanen M, Henner A, et al.

Radiography (London, England : 1995) 2023; (29 Suppl 1()):S13-S23 doi:10.1016/j.radi.2022.09.013.

Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC-neurons and cardiomyocytes.

Angulo MB, Bertalovitz A, Argenziano MA, et al.

Molecular genetics & genomic medicine 2023; (11(1)):e2093 doi:10.1002/mgg3.2093.

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.

Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance.

Klockgether T, Synofzik M,

Cerebellum (London, England) 2024; (23(3)):924-930 doi:10.1007/s12311-023-01547-z.

Omaveloxolone: First Approval.

Lee A

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

Ataxia-associated DNA repair genes protect the Drosophila mushroom body and locomotor function against glutamate signaling-associated damage.

Eidhof I, Krebbers A, van de Warrenburg B, Schenck A

Frontiers in neural circuits 2023; (17()):1148947 doi:10.3389/fncir.2023.1148947.

Survey of maternal anxiety and perceptions towards foetal MRI and pre-scan education.

Plunkett S, Dobeli K, Prior M, Tusek X

Journal of medical radiation sciences 2024; (71(1)):10-20 doi:10.1002/jmrs.725.

Effectiveness of rehabilitation intervention in persons with Friedreich ataxia.

Paparella G, Stragà C, Vavla M, et al.

Frontiers in neurology 2023; (14()):1270296 doi:10.3389/fneur.2023.1270296.

Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.

Wu C, Zhang Z

Journal of medical genetics 2024; (61(5)):430-434 doi:10.1136/jmg-2023-109397.

Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship.

Abramowicz S, Dentel A, Chouraqui M, et al.

Neurogenetics 2024; (25(1)):33-38 doi:10.1007/s10048-023-00741-9.

Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.

Indelicato E, Reetz K, Maier S, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(3)):510-518 doi:10.1002/mds.29687.

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.

Mahdieh N, Heidari M, Rezaei Z, et al.

Human genomics 2024; (18(1)):35 doi:10.1186/s40246-024-00598-5.

Single-Session Cerebellar Transcranial Direct Current Stimulation Improves Postural Stability and Reduces Ataxia Symptoms in Spinocerebellar Ataxia.

Brito R, Fabrício JV, Araujo A, et al.

Cerebellum (London, England) 2024; (23(5)):1993-2002 doi:10.1007/s12311-024-01696-9.

Absence of ATM leads to altered NK cell function in mice.

Covino DA, Desimio MG, Giovinazzo A, et al.

Clinical immunology (Orlando, Fla.) 2024; (263()):110233 doi:10.1016/j.clim.2024.110233.

Item performance of the scale for the assessment and rating of ataxia in rare and ultra-rare genetic ataxias.

Hamdan A, Hooker AC, Chen X, et al.

CPT: pharmacometrics & systems pharmacology 2024; (13(8)):1327-1340 doi:10.1002/psp4.13162.

MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.

Scaravilli A, Negroni D, Senatore C, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(8)):1343-1351 doi:10.1002/mds.29871.

Ataxias in Brazil: 17 years of experience in an ataxia center.

Massuyama BK, Gama MTD, Silva TYT, et al.

Arquivos de neuro-psiquiatria 2024; (82(8)):1-8 doi:10.1055/s-0044-1787800.

Global availability and uptake of psychological services for adults, caregivers and children with food allergy.

Knibb RC, Herbert LJ, Jones CJ, et al.

Allergy 2024; (79(10)):2787-2797 doi:10.1111/all.16204.

Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.

Nakano Y, Kuiper RP, Nichols KE, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2024; (30(22)):5009-5020 doi:10.1158/1078-0432.CCR-24-1098.

Differential Effects of Cerebellar Transcranial Direct Current Stimulation with Gait Training on Functional Mobility, Balance, and Ataxia Symptoms.

Brito R, Fabrício JV, Araujo A, et al.

Cerebellum (London, England) 2024; (23(6)):2457-2467 doi:10.1007/s12311-024-01750-6.

Clinical diagnosis and management of spinocerebellar ataxia in a resource-constrained setting: a case report from Eastern Nepal.

Adhikari N, Pokhrel P, Kc P, et al.

Annals of medicine and surgery (2012) 2024; (86(12)):7385-7389 doi:10.1097/MS9.0000000000002654.

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.

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.

Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia.

Guo L, Wu F, Wang Y, et al.

Frontiers in neurology 2025; (16()):1595505 doi:10.3389/fneur.2025.1595505.

Efficacy of Manual Wheelchair Skills Training for Improving Skills and Confidence in People With Hereditary Degenerative Disorders: Protocol for a Sequential Multimethods Study.

Niyomwungere E, Routhier F, Gagnon C, et al.

JMIR research protocols 2025; (14()):e66974 doi:10.2196/66974.

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia-It Is Not Too Late.

Reetz K, Lischewski SA, Schulz JB, et al.

Annals of clinical and translational neurology 2026; (13(1)):200-203 doi:10.1002/acn3.70219.

Evaluating participant experiences and tolerability with MR Linac imaging.

Nartey J, McNair HA, Biscombe K, et al.

Technical innovations & patient support in radiation oncology 2025; (36()):100348 doi:10.1016/j.tipsro.2025.100348.

Early experience on omaveloxolone in adult patients with Friedreich's ataxia: a real-world observational study.

Lima SM, Caltagirone M, Messina C, et al.

Journal of neurology 2025; (272(11)):742 doi:10.1007/s00415-025-13487-1.

Generation of Friedreich's ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutation.

Yameogo P, Gerhart BJ, Sentmanat MF, et al.

Stem cell research 2026; (93()):103966 doi:10.1016/j.scr.2026.103966.