Have a personal or library account? Click to login
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia Cover

Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia

Open Access
|May 2016

References

  1. 1
    OuahchiKAritaMKaydenHet alAtaxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer proteinNat Genet19959141145doi: 10.1038/ng0295-1417719340
  2. 2
    HardingAEMatthewsSJonesSEllisCJBoothIWMullerDPSpinocerebellar degeneration associated with a selective defect of vitamin E absorptionN Engl J Med19853133235doi: 10.1056/NEJM1985070431301074000224
  3. 3
    MariottiCGelleraCRimoldiMet alAtaxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian familiesNeurol Sci200425130137doi: 10.1007/s10072-004-0246-z15300460
  4. 4
    GabsiSGouider-KhoujaNBelalSet alEffect of vitamin E supplementation in patients with ataxia with vitamin E deficiencyEur J Neurol20018477481doi: 10.1046/j.1468-1331.2001.00273.x11554913
  5. 5
    AngeliniLErbaAMariottiCGelleraCCianoCNardocciNMyoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patientMov Disord200217612614doi: 10.1002/mds.1002612112220
  6. 6
    DexterDTNanayakkaraIGoss-SampsonMAet alNigral dopaminergic cell loss in vitamin E deficient ratsNeuroreport1994517731776doi: 10.1097/00001756-199409080-000227827329
  7. 7
    GellerAGillesFShwachmanHDegeneration of fasciculus gracilis in cystic fibrosisNeurology197727185187doi: 10.1212/WNL.27.2.185556835
  8. 8
    NelsonJSFitchCDFischerVWBrounGOChouACProgressive neuropathologic lesions in vitamin E-deficient rhesus monkeysJ Neuropathol Exp Neurol198140166186doi: 10.1097/00005072-198103000-000087463101
  9. 9
    RosenblumJLKeatingJPPrenskyALNelsonJSA progressive neurologic syndrome in children with chronic liver diseaseN Engl J Med1981304503508doi: 10.1056/NEJM1981022630409027453784
  10. 10
    SungJHParkSHMastriARWarwickWJAxonal dystrophy in the gracile nucleus in congenital biliary atresia and cystic fibrosis (mucoviscidosis): beneficial effect of vitamin E therapyJ Neuropathol Exp Neurol198039584597doi: 10.1097/00005072-198009000-000077218000
  11. 11
    WederBMeienbergOWildiEMeierCNeurologic disorder of vitamin E deficiency in acquired intestinal malabsorptionNeurology19843415611565doi: 10.1212/WNL.34.12.15616504327
  12. 12
    SouthamEThomasPKKingRHMGoss-SampsonMAMullerDPRExperimental vitamin E deficiency in rats. Morphological and functional evidence of abnormal axonal transport secondary to free radical damageBrain1991114(Pt 2)915936doi: 10.4049/jimmunol.09030081710528
  13. 13
    LarnaoutABelalSZouariMet alFriedreich’s ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patientActa Neuropathol199793633637doi: 10.1007/s0040100506629194904
  14. 14
    YokotaTUchiharaTKumagaiJet alPostmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein geneJ Neurol Neurosurg Psychiatry200068521525doi: 10.1136/jnnp.68.4.52110727494
  15. 15
    AmielJMaziereJCBeuclerIet alFamilial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-upJ Inherit Metab Dis199518333340doi: 10.1007/BF007104257474901
  16. 16
    RoubertieABiolsiBRivierFHumbertclaudeVCheminalREchenneBAtaxia with vitamin E deficiency and severe dystonia: report of a caseBrain Dev200325442445doi: 10.1016/S0387-7604(03)00054-812907280
  17. 17
    KrendelDAGilchristJMJohnsonAOBossenEHIsolated deficiency of vitamin E with progressive neurologic deteriorationNeurology198737538540doi: 10.1212/WNL.37.3.5383822155
  18. 18
    StumpfDASokolRBettisDet alFriedreich’s disease: V. Variant form with vitamin E deficiency and normal fat absorptionNeurology1987376874doi: 10.1212/WNL.37.1.683796840
  19. 19
    JacksonCEAmatoAABarohnRJIsolated vitamin E deficiencyMuscle Nervedoi: 10.1002/(SICI)1097-4598(199609)19:93.0.CO;2-Y
  20. 20
    YokotaTShiojiriTGotodaTet alFriedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein geneAnn Neurol199741826832doi: 10.1002/ana.4104106219189046
  21. 21
    CavalierLOuahchiKKaydenHJet alAtaxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of familiesAm J Hum Genet199862301310doi: 10.1086/3016999463307
  22. 22
    SchuelkeMMayatepekEInterMet alTreatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiencyJ Pediatr1999134240244doi: 10.1016/S0022-3476(99)70424-59931538
DOI: https://doi.org/10.5334/tohm.298 | Journal eISSN: 2160-8288
Language: English
Submitted on: Feb 22, 2016
Accepted on: Apr 7, 2016
Published on: May 17, 2016
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2016 Andrew E. Becker, Wendy Vargas, Toni S. Pearson, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.