First case of ataxia with isolated vitamin E deficiency in the Netherlands

Parkinsonism and Related Disorders

Volumn 13, Issue 5, 2007, Pages 315-316

  Ponten, S C ^a   Kwee, M L ^b   Wolters, E Ch ^a   Zijlmans, J C M ^a  

^a Department of Neurology ^*  (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

AVED, Ataxia, Vitamin E deficiency; Friedreich's ataxia; tocopherol transfer protein

Indexed keywords

ALPHA TOCOPHEROL; ALPHA TOCOPHEROL TRANSPORT PROTEIN; CARRIER PROTEIN; FRATAXIN; UNCLASSIFIED DRUG;

ADULT; ALPHA TOCOPHEROL DEFICIENCY; ANAMNESIS; ARTICLE; ATAXIA; ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY; CASE REPORT; CEREBELLAR ATAXIA; CHROMOSOME 8Q; CLINICAL FEATURE; DIAGNOSTIC TEST; DISEASE COURSE; FEMALE; FRIEDREICH ATAXIA; GENETIC ANALYSIS; HUMAN; NETHERLANDS; POINT MUTATION; PRIORITY JOURNAL; VITAMIN METABOLISM;

EID: 34347226277     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2006.06.011     Document Type: Article

References (9)

1. Mariotti C., Gellera C., Rimoldi M., Mineri R., Uziel G., Zorzi G., et al. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci 25 3 (2004) 130-137
2. Burck U., Goebel H.H., Kuhlendahl H.D., Meier C., and Goebel K.M. Neuromyopathy and vitamin E deficiency in man. Neuropediatrics 12 3 (1981) 267-278
3. Ouahchi K., Arita M., Kayden H., Hentati F., Ben Hamida M., Sokol R., et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet 9 2 (1995) 141-145
4. Federico A. Ataxia with isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich's ataxia. Neurol Sci 25 3 (2004) 119-121
5. Gabsi S., Gouider-Khouja N., Belal S., Fki M., Kefi M., Turki I., et al. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol 8 5 (2001) 477-481
6. Gotoda T., Arita M., Arai H., Inoue K., Yokota T., Fukuo Y., et al. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med 333 20 (1995) 1313-1318
7. Meier R., Tomizaki T., Schulze-Briese C., Baumann U., and Stocker A. The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. J Mol Biol 331 3 (2003) 725-734
8. Ben Hamida C., Doerflinger N., Belal S., Linder C., Reutenauer L., Dib C., et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 5 2 (1993) 195-200
9. Di Donato S., Gellera C., and Mariotti C. The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias. Neurol Sci 22 3 (2001) 219-228