Adrenoleukodystrophy: heterogeneity in two brothers.
A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with the consequent difficulty in diagnosis and nomenclature.
Elrington
G M
GM
Wessex Neurological Centre, Southampton, UK.
Bateman
D E
DE
Jeffrey
M J
MJ
Lawton
N F
NF
D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001921:Brain / Q000473:pathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009186:Myelin Sheath / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014960:X Chromosome