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Friedreich's disease

V. Variant form with vitamin E deficiency and normal fat absorption

Departments of Neurology and Pediatrics, The University of Colorado School of Medicine, Denver, CO. Dr. Angelini is a visiting scientist from the Department of Neurology, University of Padova, Padova, Italy.

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.

Address correspondence and reprint requests to Dr. Stumpf, Northwestern University Medical School, Director of Pediatric Neurology, Children's Memorial Hospital, 2300 Children's Plaza, Chicago, IL 60614.

Supported by a Clinical Research Grant from the Muscular Dystrophy Association; a grant from the National Foundation—March of Dimes; an NIH CRC Grant RR00069 from the General Clinical Research Centers Program of the Division of Research Resources; a grant from the National Ataxia Foundation; a grant from the Veterans Administration; funding from the Friedreich's Ataxia Group in America, Inc.; and a research grant from Hoffmann-LaRoche, Inc.

Received December 2, 1985. Accepted for publication April 10, 1986.

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