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The neuropathy of abetalipoproteinemia

From the Children's Hospital of San Francisco, San Francisco, CA (Dr. Miller), the Department of Neurology, The Churchill Hospital, Headington, England (Dr. Davis), the Department of Medicine, Division of Nutrition-Metabolism, University of Oregon Health Sciences Center, Portland, OR (Dr. Illingworth), and Tufts-New England Medical Center, Boston, MA (Dr. Bradley).

The clinical, electrophysiologic, and pathologic features of the peripheral neuropathy in abetalipoproteinemia (Bassen-Kornzweig disease) have been described incompletely. On the basis of findings in three patients, we believe that large muscle fibers in peripheral nerves are selectively affected and that weakness may be due to chronic partial denervation.

Address correspondence and reprint requests to Dr. Miller, Neuromuscular Research, Children's Hospital of San Francisco, 3700 California Street, San Francisco, CA 94119.

Accepted for publication January 31, 1980.

The work was carried out while Dr. Davis was in receipt of an M.R.C. research registrarship, and the work was supported by grants from the Friedreich Ataxia Group, the Muscular Dystrophy Groups of Great Britain and America, and the General Clinical Research Center Program (No. RR 334), National Institutes of Health.

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