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Plasma Catechols in Familial Dysautonomia: A Long-term Follow-up Study

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Abstract

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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Article 19 May 2023

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Abbreviations

DHPG:

Dihydroxyphenylglycol

EPI:

Epinephrine (adrenaline)

NE:

Norepinephrine (noradrenaline)

DA:

Dopamine

DOPA:

3,4–dhihydroxyphenylalanine

DOPAC:

Dihydroxyphenylacetic acid

FD:

Familial dysautonomia

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Acknowledgment

This research was supported by the Intramural Research Program of the NIH, National Institute of Neurological Disorders and Stroke.

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Authors and Affiliations

  1. 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

    David S. Goldstein & Courtney Holmes

  2. Dysautonomia Center, Department of Pediatrics, New York University School of Medicine, New York, NY, USA

    Felicia B. Axelrod

Authors
  1. David S. Goldstein
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  2. Courtney Holmes
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  3. Felicia B. Axelrod
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Correspondence to David S. Goldstein.

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Goldstein, D.S., Holmes, C. & Axelrod, F.B. Plasma Catechols in Familial Dysautonomia: A Long-term Follow-up Study. Neurochem Res 33, 1889–1893 (2008). https://doi.org/10.1007/s11064-008-9662-4

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  • DOI: https://doi.org/10.1007/s11064-008-9662-4

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