Familial spastic paraparesis: an adrenoleukodystrophy phenotype?
Adrenoleukodystrophy (ALD) must be considered in the diagnosis of men with progressive nervous system disease. We found the biochemical defect characteristic of ALD in two brothers with spastic paraparesis of late adult onset. Family study then revealed other affected men and asymptomatic heterozygotes in a pattern that conformed to an X-linked pattern of inheritance.
D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005227:Fatty Acids / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007866:Leg; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000235:genetics* / Q000378:metabolism; D010243:Paralysis / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree
D005227:Fatty Acids