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Familial spastic paraparesis

An adrenoleukodystrophy phenotype?

Department of Neurology (Drs. O'Neill and Swanson), Mayo Clinic and Foundation, Rochester, MN; and the Departments of Pediatrics (Dr. Brown) and Neurology (Drs. Griffin and Moser), John F. Kennedy Institute, Johns Hopkins Medical Institutions, Baltimore, MD.

Adrenoleukodystrophy (ALD) must be considered in the diagnosis of men with progressive nervous system disease. We found the biochemical defect characteristic of ALD in two brothers with spastic paraparesis of late adult onset. Family study then revealed other affected men and asymptomatic heterozygotes in a pattern that conformed to an X-linked pattern of inheritance.

Address correspondence and reprint requests to Dr. O'Neill. Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905.

Accepted for publication November 30, 1984.

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