Abstract
Syndrome OMIM number: #277460
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Di Donato I, Bianchi S, Federico A (2010) Ataxia with vitamin E deficiency: update of molecular diagnosis. Neurol Sci 31:511–515. https://doi.org/10.1007/s10072-010-0261-1
El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F (2014) Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. Brain 137:402–410. https://doi.org/10.1093/brain/awt339
Federico A (2004) Ataxia with isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich’s ataxia. Neurol Sci 25:119–121. https://doi.org/10.1007/s10072-004-0245-0
Gana S, Valente EM (2020) Movement disorders in genetic pediatric ataxias. Mov Disord Clin Pract 7:383–393. https://doi.org/10.1002/mdc3.12937
Harding AE, Matthews S, Jones S, Ellis CJ, Booth IW, Muller DP (1985) Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. N Engl J Med 313:32–35. https://doi.org/10.1056/NEJM198507043130107
Lee P, Ulatowski LM (2019) Vitamin E: mechanism of transport and regulation in the CNS. IUBMB Life 71:424–429. https://doi.org/10.1002/iub.1993
Mariotti C et al (2004) Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci 25:130–137. https://doi.org/10.1007/s10072-004-0246-z
Trotta E, Bortolotti S, Fugazzotto G, Gellera C, Montagnese S, Amodio P (2019) Familial vitamin E deficiency: multiorgan complications support the adverse role of oxidative stress. Nutrition 63-64:57–60. https://doi.org/10.1016/j.nut.2018.11.012
Zea Vera A, Liu W, Thomas C, Gilbert DL (2021) Pearls & Oy-sters: A novel presentation of ataxia with vitamin E deficiency caused by TTPA gene mutation. Neurology 96:e640–e642. https://doi.org/10.1212/WNL.0000000000010853
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2023 Springer Nature Switzerland AG
About this entry
Cite this entry
de Rezende Pinto, W.B.V., de Mattos Lombardi Badia, B., Farias, I.B., Souza, P.V.S., Oliveira, A.S.B. (2023). Familial Isolated Vitamin E Deficiency. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_1741-1
Download citation
DOI: https://doi.org/10.1007/978-3-319-66816-1_1741-1
Received:
Accepted:
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-66816-1
Online ISBN: 978-3-319-66816-1
eBook Packages: Springer Reference MedicineReference Module Medicine