A case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction

J Mov Disord. 2009 Oct;2(2):91-4. doi: 10.14802/jmd.09025. Epub 2009 Oct 30.

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar degeneration, with a review of the literature.

Keywords: Olivopontocerebellar degeneration; Phenotype; X-linked adrenoleukodystrophy.