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.

Suboptimal Serum α-Tocopherol Concentrations Observed among Younger Adults and Those Depending Exclusively upon Food Sources, NHANES 2003-20061-3.

McBurney MI, Yu EA, Ciappio ED, et al.

PloS one 2015; (10(8)):e0135510 doi:10.1371/journal.pone.0135510.

A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia.

Bonello M, Ray P

Case reports in neurological medicine 2016; (2016()):8342653 doi:10.1155/2016/8342653.

The interrelationship between disease severity, dynamic stability, and falls in cerebellar ataxia.

Schniepp R, Schlick C, Pradhan C, et al.

Journal of neurology 2016; (263(7)):1409-17 doi:10.1007/s00415-016-8142-z.

Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia.

Becker AE, Vargas W, Pearson TS

Tremor and other hyperkinetic movements (New York, N.Y.) 2016; (6()):374 doi:10.7916/D8B85820.

Vitamin E and Phosphoinositides Regulate the Intracellular Localization of the Hepatic α-Tocopherol Transfer Protein.

Chung S, Ghelfi M, Atkinson J, et al.

The Journal of biological chemistry 2016; (291(33)):17028-39 doi:10.1074/jbc.M116.734210.

Screening of α-Tocopherol Transfer Protein Sensitive Genes in Human Hepatoma Cells (HepG2).

Qu YH, Fu JC, Liu K, et al.

International journal of molecular sciences 2016; (17(7)).

Oral Tocofersolan Corrects or Prevents Vitamin E Deficiency in Children With Chronic Cholestasis.

Thébaut A, Nemeth A, Le Mouhaër J, et al.

Journal of pediatric gastroenterology and nutrition 2016; (63(6)):610-615 doi:10.1097/MPG.0000000000001331.

Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.

Arias M

Neurologia 2019; (34(4)):248-258 doi:10.1016/j.nrl.2016.06.006.

Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease.

Cuerq C, Henin E, Restier L, et al.

Journal of lipid research 2018; (59(9)):1640-1648 doi:10.1194/jlr.M085043.

Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases.

Rao VK, DiDonato CJ, Larsen PD

Case reports in neurological medicine 2018; (2018()):8587203 doi:10.1155/2018/8587203.

Cerebellar ataxia.

Marsden JF

Handbook of clinical neurology 2018; (159()):261-281 doi:10.1016/B978-0-444-63916-5.00017-3.

Vitamin E - The Next 100 Years.

Khadangi F, Azzi A

IUBMB life 2019; (71(4)):411-415 doi:10.1002/iub.1990.

Familial vitamin E deficiency: Multiorgan complications support the adverse role of oxidative stress.

Trotta E, Bortolotti S, Fugazzotto G, et al.

Nutrition (Burbank, Los Angeles County, Calif.) 2019; (63-64()):57-60 doi:10.1016/j.nut.2018.11.012.

Tocopherols, tocotrienols and tocomonoenols: Many similar molecules but only one vitamin E.

Azzi A

Redox biology 2019; (26()):101259 doi:10.1016/j.redox.2019.101259.

Single-Cell RNA-seq Reveals Profound Alterations in Mechanosensitive Dorsal Root Ganglion Neurons with Vitamin E Deficiency.

Finno CJ, Peterson J, Kang M, et al.

iScience 2019; (21()):720-735 doi:10.1016/j.isci.2019.10.064.

Cryptogenic Intracranial Hemorrhagic Strokes Associated with Hypervitaminosis E and Acutely Elevated α-Tocopherol Levels.

Le NK, Kesayan T, Chang JY, Rose DZ

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2020; (29(5)):104747 doi:10.1016/j.jstrokecerebrovasdis.2020.104747.

Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.

Schwartz SG, Wang X, Chavis P, et al.

The Cochrane database of systematic reviews 2020; (6(6)):CD008428 doi:10.1002/14651858.CD008428.pub3.

First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement Therapy.

Kohlschütter A, Finckh B, Nickel M, et al.

Neuro-degenerative diseases 2020; (20(1)):35-38 doi:10.1159/000508080.

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation.

Maalej M, Kammoun F, Kharrat M, et al.

Acta neurologica Belgica 2021; (121(6)):1733-1740 doi:10.1007/s13760-020-01490-4.

A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.

Riso V, Galatolo D, Barghigiani M, et al.

European journal of neurology 2021; (28(8)):2784-2788 doi:10.1111/ene.14868.

Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?

Sissaoui S, Cochet M, Poinsot P, et al.

Journal of pediatric gastroenterology and nutrition 2021; (73(1)):4-8 doi:10.1097/MPG.0000000000003145.

α-Tocopherol transfer protein (α-TTP).

Arai H, Kono N

Free radical biology & medicine 2021; (176()):162-175 doi:10.1016/j.freeradbiomed.2021.09.021.

Ataxia with vitamin E deficiency in the Philippines : A case report of two siblings.

Tabuena MD, Morigaki R, Miyamoto R, et al.

The journal of medical investigation : JMI 2021; (68(3.4)):400-403 doi:10.2152/jmi.68.400.

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.

The attitude of patients with progressive ataxias towards clinical trials.

Thomas-Black G, Dumitrascu A, Garcia-Moreno H, et al.

Orphanet journal of rare diseases 2022; (17(1)):1 doi:10.1186/s13023-021-02091-x.

The tocopherol transfer protein mediates vitamin E trafficking between cerebellar astrocytes and neurons.

Ulatowski L, Ghelfi M, West R, et al.

The Journal of biological chemistry 2022; (298(3)):101712 doi:10.1016/j.jbc.2022.101712.

Vitamin E (Alpha-Tocopherol) Metabolism and Nutrition in Chronic Kidney Disease.

Galli F, Bonomini M, Bartolini D, et al.

Antioxidants (Basel, Switzerland) 2022; (11(5)) doi:10.3390/antiox11050989.

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.

Clinical and genetic study of ataxia with vitamin E deficiency: A case report.

Zhang LW, Liu B, Peng DT

World journal of clinical cases 2022; (10(23)):8271-8276 doi:10.12998/wjcc.v10.i23.8271.

Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias.

Bordat C, Vairo D, Cuerq C, et al.

Nutrients 2023; (15(3)) doi:10.3390/nu15030505.

Vitamin E-induced coagulopathy in a young patient: a case report.

Abrol R, Kaushik R, Goel D, et al.

Journal of medical case reports 2023; (17(1)):107 doi:10.1186/s13256-023-03827-y.

The low prevalence rate of vitamin E deficiency in urban adults of Wuhan from central China: findings from a single-center, cross-sectional study.

Shen Y, Liu K, Luo X, Cheng L

European journal of medical research 2023; (28(1)):141 doi:10.1186/s40001-023-01103-9.

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.

Bremova-Ertl T, Hofmann J, Stucki J, et al.

Cells 2023; (12(18)) doi:10.3390/cells12182314.

Association of Broad-Spectrum Antibiotic Therapy and Vitamin E Supplementation with Vitamin K Deficiency-Induced Coagulopathy: A Case Report and Narrative Review of the Literature.

Matthaiou AM, Tomos I, Chaniotaki S, et al.

Journal of personalized medicine 2023; (13(9)) doi:10.3390/jpm13091349.

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.

Scientific opinion on the tolerable upper intake level for vitamin E.

, Turck D, Bohn T, et al.

EFSA journal. European Food Safety Authority 2024; (22(8)):e8953 doi:10.2903/j.efsa.2024.8953.

Goal-Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single-Blind, Randomized Controlled Superiority Trial.

Milne SC, Roberts M, Williams S, et al.

Annals of neurology 2025; (97(3)):409-424 doi:10.1002/ana.27130.

Syndromic retinitis pigmentosa.

Karuntu JS, Almushattat H, Nguyen XT, et al.

Progress in retinal and eye research 2025; (107()):101324 doi:10.1016/j.preteyeres.2024.101324.

Effects of physiotherapy on degenerative cerebellar ataxia: a systematic review and meta-analysis.

Matsugi A, Bando K, Kondo Y, et al.

Frontiers in neurology 2024; (15()):1491142 doi:10.3389/fneur.2024.1491142.

Vitamin E (α-Tocopherol): Emerging Clinical Role and Adverse Risks of Supplementation in Adults.

Kaye AD, Thomassen AS, Mashaw SA, et al.

Cureus 2025; (17(2)):e78679 doi:10.7759/cureus.78679.

Dietary and lifestyle interventions for the management of hereditary ataxias.

Yang W, Thompson B, Kwa FAA

Frontiers in nutrition 2025; (12()):1548821 doi:10.3389/fnut.2025.1548821.

Reversible coagulopathy associated with vitamin E excess.

Green TD, Williams DM, Sharman J, Stephens JW

BMJ case reports 2025; (18(6)) doi:10.1136/bcr-2025-265116.

Spinocerebellar Ataxia Type 23 (SCA23): A Rare Cause of SCA in the Americas.

Saadeh VMD, Nassif D, Vasconcellos LF

Cerebellum (London, England) 2026; (25(3)).

Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant: A Paired Case Report.

Baso G, Magri F, Sciacco M, et al.

Neurology. Genetics 2026; (12(3)):e200399 doi:10.1212/NXG.0000000000200399.

Assessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak cough flow.

Smith BK, Coker MA, Liberati C, et al.

Journal of neuromuscular diseases 2026; 22143602261452334 doi:10.1177/22143602261452334.

Analysis of clinical pedigree characteristics in Chinese patients with ataxia with vitamin E deficiency.

Lv P, Liu L, Hao Y, et al.

Molecular genetics and metabolism 2026; (148(4)):110167 doi:10.1016/j.ymgme.2026.110167.

Expanding the ocular and genetic spectrum of FLVCR1-associated disease in a Chinese cohort.

Wei X, Li W, Zhou Y, et al.

Documenta ophthalmologica. Advances in ophthalmology 2026; doi:10.1007/s10633-026-10137-3.

MNV-aware molecular characterization of a rare homozygous TTPA complex allele in ataxia with vitamin E deficiency.

Zaki-Dizaji M, Sarband MM

Molecular genetics and genomics : MGG 2026; (301(1)).