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J. Neurol. Neurosurg. Psychiatr. · May 2004
Case ReportsX-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis.
- C J Shaw-Smith, S J G Lewis, and E Reid.
- Department of Medical Genetics, University of Cambridge, UK.
- J. Neurol. Neurosurg. Psychiatr. 2004 May 1; 75 (5): 686688686-8.
AbstractWe 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.
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