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Neurochem Res. 2008 Sep;33(9):1889-93. doi: 10.1007/s11064-008-9662-4. Epub 2008 Mar 21.

Plasma catechols in familial dysautonomia: a long-term follow-up study.

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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.


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.

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