Abstract
A 30-year-old woman was thought to have Friedreich’s disease because of progressive ataxia, dysarthria, and titubation from age 3 years. Her diet was normal, and there were neither symptoms nor laboratory evidence of liver disease or fat malabsorption. Serum vitamin E content and the ratio of serum vitamin E to total serum lipid were very low, but serum vitamin A, cholylglycine, and lipid levels were normal, as was an oral vitamin E tolerance test. Muscle biopsy showed the lysosomal inclusions of vitamin E deficiency. Mitochondria had normal oxidative phosphorylation using polarographic assays. The cause of her vitamin E deficiency was unknown.
Original language | English |
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Pages (from-to) | 68-74 |
Number of pages | 7 |
Journal | Neurology |
Volume | 37 |
Issue number | 1 |
Publication status | Published - 1987 |
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology
- Neuroscience(all)