X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis.
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.
Shaw-Smith
C J
CJ
Department of Medical Genetics, University of Cambridge, UK.
Lewis
S J G
SJ
Reid
E
E
D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003066:Coenzyme A Ligases / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D000098859:Long-Chain-Fatty-Acid-CoA Ligase
D003066:Coenzyme A Ligases; D000098859:Long-Chain-Fatty-Acid-CoA Ligase