Adrenoleukodystrophy: Heterogeneity in two brothers

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Abstract

A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with the consequent difficulty in diagnosis and nomenclature.

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Elrington, G. M., Bateman, D. E., Jeffrey, M. J., & Lawton, N. F. (1989). Adrenoleukodystrophy: Heterogeneity in two brothers. Journal of Neurology Neurosurgery and Psychiatry, 52(3), 310–313. https://doi.org/10.1136/jnnp.52.3.310

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