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X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis

¹ Department of Medical Genetics, University of Cambridge, UK
² Department of Neurology, Addenbrooke’s Hospital, Cambridge, UK

Correspondence to:
Correspondence to:
Dr E Reid
Department of Medical Genetics, Box 134, Addenbrooke’s Hospital, Cambridge, CB2 2QQ, UK; ereid{at}hgmp.mrc.ac.uk

ABSTRACT
We present a family in which an initial clinical diagnosis of autosomal dominant pure hereditary spastic paraparesis (HSP) was made on the basis of a three generation pedigree in which both males and females presented with a spastic paraparesis. Subsequent biochemical and genetic analysis revealed that the family was in fact affected by the adrenomyeloneuropathy subtype of X-linked adrenoleukodystrophy. In the family described, both males and females were affected by a spastic paraparesis, and there was no male to male transmission, consistent with both autosomal dominant and X-linked inheritance. This report illustrates the importance of assaying very long chain fatty acids (VLCFAs) in any HSP family where there is no male to male transmission.

Keywords: X-linked adrenoleukodystrophy; hereditary spastic paraparesis

Abbreviations: ALD, adrenoleukodystrophy; AMN, adrenomyeloneuropathy; HSP, hereditary spastic paraplegia; MRI, magnetic resonance imaging; VLCFAs, very long chain fatty acids

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