J Intern Med. 1991 Dec;230(6):535-8.

Adrenomyeloneuropathy--report on a family.

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Department of Internal Medicine, Hospital of Härnösand, Sweden.

Abstract

A family is reported in which there is one case of adrenomyeloneuropathy, one case of Addison's disease and at least three heterozygous females with spastic paraparesis and peripheral neuropathy. Adrenomyeloneuropathy has not been reported previously in Scandinavia. The differences in the clinical picture between the sexes and at different ages are emphasized. Elevation of the levels of very-long-chain fatty acids in plasma is a characteristic feature of the disease and confirms the diagnosis. Some recent reports in the literature seem to provide some hope that the clinical manifestations of adrenomyeloneuropathy/adrenoleukodystrophy may be prevented.

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