Plasma catechols in familial dysautonomia: a long-term follow-up study.
This study tested whether familial dysautonomia (FD) involves progressive loss of noradrenergic nerves. Plasma levels of catechols, including dihydroxyphenylglycol (DHPG), norepinephrine (NE), dopamine (DA), and DOPA, were measured in 7 adult patients with FD and 50 healthy control subjects. FD patients were re-tested after a mean follow-up period of 13 years. Compared to controls, FD patients had low plasma levels of DHPG (P < 0.001), high DOPA and DA levels (P = 0.01, P = 0.0002), and high NE:DHPG (P < 0.0001), DA:NE (P = 0.0003), and DOPA:DHPG (P < 0.0001) ratios. At follow-up there were no changes in plasma levels of individual catechols; however, there were further increases in DOPA:DHPG ratios (mean 24 +/- 7%, P = 0.01). In FD, plasma catechol profiles are sufficiently stable, at least over a decade, to be used as a biomarker of disease involvement. An increasing DOPA:DHPG ratio suggests slight but consistent, progressive loss of noradrenergic neurons.
Goldstein
David S
DS
Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, NIH, Building 10 Room 6N252, 10 Center Drive MSC-1620, Bethesda, MD 20892-1620, USA. goldsteind@ninds.nih.gov
Holmes
Courtney
C
Axelrod
Felicia B
FB
D015102:3,4-Dihydroxyphenylacetic Acid / Q000097:blood*; D000328:Adult; D004295:Dihydroxyphenylalanine / Q000097:blood*; D004298:Dopamine / Q000097:blood*; D004402:Dysautonomia, Familial / Q000097:blood* / Q000473:pathology; D004837:Epinephrine / Q000097:blood*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008734:Methoxyhydroxyphenylglycol / Q000031:analogs & derivatives / Q000097:blood; D009638:Norepinephrine / Q000097:blood*
D015102:3,4-Dihydroxyphenylacetic Acid; D008734:Methoxyhydroxyphenylglycol; D004295:Dihydroxyphenylalanine; C010117:3,4-dihydroxyphenylglycol; D004298:Dopamine; D009638:Norepinephrine; D004837:Epinephrine