Screening of patients with hereditary spastic paraparesis and Addison's disease for adrenoleukodystrophy/adrenomyeloneuropathy.
X-linked adrenoleukodystrophy/adrenomyeloneuropathy presents a wide variation of clinical manifestations and may mimic several diseases. A screening investigation by measuring plasma saturated very long-chain fatty acids was performed in two groups of patients. Among six patients with hereditary spastic paraparesis one woman was detected to be a heterozygous gene carrier. However, in a group of eleven adult men with idiopathic Addison's disease the plasma concentrations of very long-chain fatty acids were all within normal limits. We conclude that X-linked adrenoleukodystrophy and symptomatic heterozygous females should be considered in cases of progressive spastic paraparesis.
Holmberg
B H
BH
Department of Internal Medicine, Härnösand Hospital, Sweden.
Hägg
E
E
Duchek
M
M
Hagenfeldt
L
L
D000224:Addison Disease / Q000235:genetics* / Q000517:prevention & control; D000328:Adult; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D012307:Risk Factors; D012729:Sex Chromosome Aberrations / Q000235:genetics* / Q000517:prevention & control; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000517:prevention & control; D014960:X Chromosome
D005227:Fatty Acids