Ataxia with isolated vitamin E deficiency: A clinical, biochemical and genetic diagnosis

Journal of Paediatrics and Child Health

Volumn 36, Issue 5, 2000, Pages 515-516

  Alex, G ^a,b   Oliver, M R ^a   Collins, K J ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Ataxia; Spinocerebellar degeneration; Vitamin E

Indexed keywords

ALPHA TOCOPHEROL; CARRIER PROTEIN;

ABETALIPOPROTEINEMIA; ADOLESCENT; ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; ATAXIA; CASE REPORT; CHEMICAL ANALYSIS; CHROMOSOME 8; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; DISEASE COURSE; ECHOCARDIOGRAPHY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALABSORPTION; NERVE CONDUCTION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; SPINOCEREBELLAR DEGENERATION;

ADOLESCENT; ATAXIA; CARRIER PROTEINS; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; POINT MUTATION; SPINOCEREBELLAR DEGENERATIONS; VITAMIN E; VITAMIN E DEFICIENCY;

EID: 0033798969     PISSN: 10344810     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1754.2000.00534.x     Document Type: Article

References (10)

1. Vitamin E and neurologic deficits
2. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
3. Ataxia with isolated vitamin E deficiency is caused by mutations in the ≃-tocopherol transfer protein
4. Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization
5. Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat malabsorption
6. Spinocerebellar degeneration associated with selective defect of vitamin E absorption
7. Isolated vitamin E deficiency and progressive ataxia
8. Treatment of ataxia in isolated vitamin E deficiency caused by α-tocopherol transfer protein deficiency
9. Impaired ability of patients with familial isolated vitamin E deficiency to incorporate α-tocopherol into lipoproteins secreted by the liver
10. Progressive neuromuscular disease in children with chronic cholestasis and vitamin E deficiency: Diagnosis and treatment with α-tocopherol