Skip to main content Accessibility help
×
Hostname: page-component-78c5997874-g7gxr Total loading time: 0 Render date: 2024-11-08T04:29:10.018Z Has data issue: false hasContentIssue false

Chapter 24 - Vitamin-Responsive Disorders: Ataxia with Vitamin E Deficiency and Movement Disorders

from Section II - A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
Get access

Summary

Ataxia with vitamin E deficiency (AVED) was first described in 1981 by Burck et al. [1] as a progressive cerebellar ataxia in a 12-year-old boy with low vitamin E levels and without any alternative diagnosis.

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
, pp. 307 - 313
Publisher: Cambridge University Press
Print publication year: 2020

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Burck, U, Goebel, HH, Kuhlendahl, HD, Meier, C, Goebel, KM. Neuromyopathy and vitamin E deficiency in man. Neuropediatrics. 1981;12(3):267–78.Google Scholar
Ben Hamida, M, Belal, S, Sirugo, G, et al. Friedreich’s ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology. 1993;43(11):2179–83.Google Scholar
Ben Hamida, C, Doerflinger, N, Belal, S, et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet. 1993;5(2):195200.CrossRefGoogle ScholarPubMed
Ouahchi, K, Arita, M, Kayden, H, et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995;9(2):141–5.Google Scholar
Mocchegiani, E, Costarelli, L, Giacconi, R, et al. Vitamin E–gene interactions in aging and inflammatory age-related diseases: Implications for treatment. A systematic review. Ageing Res Rev. 2014;14:81101.Google Scholar
Ulatowski, L, Parker, R, Warrier, G, et al. Vitamin E is essential for Purkinje neuron integrity. Neuroscience. 2014;260:120–9.CrossRefGoogle ScholarPubMed
Arita, M, Sato, Y, Miyata, A, et al. Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. Biochem J. 1995;306 ( Pt 2):437–43.CrossRefGoogle ScholarPubMed
Harding, AE, Matthews, S, Jones, S, et al. Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. N Engl J Med. 1985;313(1):32–5.Google Scholar
Yokota, T, Wada, Y, Furukawa, T, et al. Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency. Ann Neurol. 1987;22(1):84–7.CrossRefGoogle ScholarPubMed
El Euch-Fayache, G, Bouhlal, Y, Amouri, R, Feki, M, Hentati, F. Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. Brain. 2014;137(Pt 2):402–10.Google Scholar
Marzouki, N, Benomar, A, Yahyaoui, M, et al. Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: Genetic and clinical peculiarities in Moroccan patients. Eur J Med Genet. 2005;48(1):21–8.Google Scholar
Doerflinger, N, Linder, C, Ouahchi, K, et al. Ataxia with vitamin E deficiency: Refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. Am J Hum Genet. 1995;56(5):1116–24.Google ScholarPubMed
Benomar, A, Yahyaoui, M, Meggouh, F, et al. Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. J Neurol Sci. 2002; 198 (1–2): 25–9.Google Scholar
Bouhlal, Y, Zouari, M, Kefi, M, et al. Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. J Neurogenet. 2008;22(2):139-48.CrossRefGoogle Scholar
Cavalier, L, Ouahchi, K, Kayden, HJ, et al. Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet. 1998;62(2):301–10.CrossRefGoogle Scholar
Mariotti, C, Gellera, C, Rimoldi, M, et al. Ataxia with isolated vitamin E deficiency: Neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci. 2004;25(3):130–7.CrossRefGoogle ScholarPubMed
Hentati, A, Deng, HX, Hung, WY, et al. Human alpha-tocopherol transfer protein: Gene structure and mutations in familial vitamin E deficiency. Ann Neurol. 1996;39(3):295300.Google Scholar
Gotoda, T, Arita, M, Arai, H, et al. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med. 1995;333(20):1313–8.Google Scholar
Di Donato, I, Bianchi, S, Federico, A. Ataxia with vitamin E deficiency: Update of molecular diagnosis. Neurol Sci. 2010;31(4):511–5.CrossRefGoogle ScholarPubMed
Hamza, W, Ali Pacha, L, Hamadouche, T, et al. Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. BMC Med Genet. 2015;16:36.Google Scholar
Zortea, M, Armani, M, Pastorello, E, et al. Prevalence of inherited ataxias in the province of Padua, Italy. Neuroepidemiology. 2004;23(6):275–80.Google Scholar
Anheim, M, Fleury, M, Monga, B, et al. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: Implications for clinical management. Neurogenetics. 2010;11(1):112.Google Scholar
Elkamil, A, Johansen, KK, Aasly, J. Ataxia with vitamin E deficiency in Norway. J Mov Disord. 2015;8(1):33–6.Google Scholar
Bonello, M, Ray, P. A case of ataxia with isolated vitamin E deficiency initially diagnosed as Friedreich’s ataxia. Case Rep Neurol Med. 2016;2016:8342653.Google Scholar
Schuelke, M, Finckh, B, Sistermans, EA, et al. Ataxia with vitamin E deficiency: Biochemical effects of malcompliance with vitamin E therapy. Neurology. 2000;55(10):1584–6.CrossRefGoogle ScholarPubMed
Angelini, L, Erba, A, Mariotti, C, et al. Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient. Mov Disord. 2002;17(3):612–4.Google Scholar
Amiel, J, Maziere, JC, Beucler, I, et al. Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up. J Inherit Metab Dis. 1995;18(3):333–40.Google Scholar
Krendel, DA, Gilchrist, JM, Johnson, AO, Bossen, EH. Isolated deficiency of vitamin E with progressive neurologic deterioration. Neurology. 1987;37(3):538–40.Google Scholar
Stumpf, DA, Sokol, R, Bettis, D, et al. Friedreich’s disease: V. Variant form with vitamin E deficiency and normal fat absorption. Neurology. 1987;37(1):6874.CrossRefGoogle ScholarPubMed
Becker, AE, Vargas, W, Pearson, TS. Ataxia with vitamin E deficiency may present with cervical dystonia. Tremor Other Hyperkinet Mov (NY). 2016;6:374.Google Scholar
Roubertie, A, Biolsi, B, Rivier, F, et al. Ataxia with vitamin E deficiency and severe dystonia: Report of a case. Brain Dev. 2003;25(6):442–5.Google Scholar
Hoshino, M, Masuda, N, Ito, Y, et al. Ataxia with isolated vitamin E deficiency: A Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. Ann Neurol. 1999;45(6):809–12.Google Scholar
Pang, J, Kiyosawa, M, Seko, Y, et al. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. Jpn J Ophthalmol. 2001;45(6):672–6.Google Scholar
Shimohata, T, Date, H, Ishiguro, H, et al. Ataxia with isolated vitamin E deficiency and retinitis pigmentosa. Ann Neurol. 1998;43(2):273.Google Scholar
Usuki, F, Maruyama, K. Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. J Neurol Neurosurg Psychiatry. 2000;69(2):254–6.Google Scholar
Yokota, T, Shiojiri, T, Gotoda, T, et al. Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene. Ann Neurol. 1997;41(6):826–32.Google Scholar
Iwasa, K, Shima, K, Komai, K, et al. Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA gene. J Neurol Sci. 2014; 345 (1-2): 228–30.Google Scholar
Kara, B, Uzumcu, A, Uyguner, O, et al. Ataxia with vitamin E deficiency associated with deafness. Turk J Pediatr. 2008;50(5):471–5.Google Scholar
Rossato, M, Mariotti, C. Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency. Andrologia. 2014;46(3):322–4.Google Scholar
Mansoor, S, Ahmad, A. Progressive ataxia due to alpha-tocopherol deficiency in Pakistan. Iran J Neurol. 2016;15(2):103–5.Google Scholar
Muller, KI, Bekkelund, SI. Epilepsy in a patient with ataxia caused by vitamin E deficiency. BMJ Case Rep. 2011;doi:10.1136/bcr.01.2011.3728.Google Scholar
Larnaout, A, Belal, S, Zouari, M, et al. Friedreich’s ataxia with isolated vitamin E deficiency: A neuropathological study of a Tunisian patient. Acta Neuropathol. 1997;93(6):633–7.CrossRefGoogle ScholarPubMed
Yokota, T, Uchihara, T, Kumagai, J, et al. Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene. J Neurol Neurosurg Psychiatry. 2000;68(4):521–5.Google Scholar
Durr, A, Cossee, M, Agid, Y, et al. Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med. 1996;335(16):1169–75.Google Scholar
Ponten, SC, Kwee, ML, Wolters, E, Zijlmans, JC. First case of ataxia with isolated vitamin E deficiency in the Netherlands. Parkinsonism Relat Disord. 2007;13(5):315–6.Google Scholar
Doria-Lamba, L, De Grandis, E, Cristiani, E, et al. Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency. Eur J Pediatr. 2006;165(7):494–5.Google Scholar
Gabsi, S, Gouider-Khouja, N, Belal, S, et al. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol. 2001;8(5):477–81.Google Scholar
Schuelke, M, Mayatepek, E, Inter, M, et al. Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. J Pediatr. 1999;134(2):240–4.Google Scholar
Zelante, G, Patti, F, Vinciguerra, L, Gellera, C, Zappia, M. Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation. Neurol Sci. 2016;37(9):1571–2.Google Scholar
Koht, J, Bjornara, KA, Jorum, E, Tallaksen, CM. Ataxia with vitamin E deficiency in southeast Norway, case report. Acta Neurol Scand Suppl. 2009(189):42–5.Google Scholar
Cellini, E, Piacentini, S, Nacmias, B, et al. A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. Arch Neurol. 2002;59(12):1952–3.Google Scholar
Martinello, F, Fardin, P, Ottina, M, et al. Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia. J Neurol Sci. 1998;156(2):177–9.Google Scholar
Tamaru, Y, Hirano, M, Kusaka, H, et al. Alpha-tocopherol transfer protein gene: Exon skipping of all transcripts causes ataxia. Neurology. 1997;49(2):584–8.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×