Document Detail

Neurocognitive function in dopamine-β-hydroxylase deficiency.
MedLine Citation:
PMID:  21471955     Owner:  NLM     Status:  MEDLINE    
Dopamine-β-hydroxylase (DβH) deficiency is a rare genetic syndrome characterized by the complete absence of norepinephrine in the peripheral and the central nervous system. DβH-deficient patients suffer from several physical symptoms, which can be treated successfully with L-threo-3,4-dihydroxyphenylserine, a synthetic precursor of norepinephrine. Informal clinical observations suggest that DβH-deficient patients do not have obvious cognitive impairments, even when they are not medicated, which is remarkable given the important role of norepinephrine in normal neurocognitive function. This study provided the first systematic investigation of neurocognitive function in human DβH deficiency. We tested 5 DβH-deficient patients and 10 matched healthy control participants on a comprehensive cognitive task battery, and examined their pupil dynamics, brain structure, and the P3 component of the electroencephalogram. All participants were tested twice; the patients were tested once ON and once OFF medication. Magnetic resonance imaging scans of the brain revealed that the patients had a smaller total brain volume than the control group, which is in line with the recent hypothesis that norepinephrine has a neurotrophic effect. In addition, the patients showed an abnormally small or absent task-evoked pupil dilation. However, we found no substantial differences in cognitive performance or P3 amplitude between the patients and the control participants, with the exception of a temporal-attention deficit in the patients OFF medication. The largely spared neurocognitive function in DβH-deficient patients suggests that other neuromodulators have taken over the function of norepinephrine in the brains of these patients.
Marieke Jepma; Jaap Deinum; Christopher L Asplund; Serge Arb Rombouts; Jouke T Tamsma; Nathanja Tjeerdema; Michiel M Spapé; Emily M Garland; David Robertson; Jacques Wm Lenders; Sander Nieuwenhuis
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-04-06
Journal Detail:
Title:  Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology     Volume:  36     ISSN:  1740-634X     ISO Abbreviation:  Neuropsychopharmacology     Publication Date:  2011 Jul 
Date Detail:
Created Date:  2011-06-15     Completed Date:  2012-03-22     Revised Date:  2013-06-30    
Medline Journal Info:
Nlm Unique ID:  8904907     Medline TA:  Neuropsychopharmacology     Country:  England    
Other Details:
Languages:  eng     Pagination:  1608-19     Citation Subset:  IM    
Leiden University, Institute of Psychology, Leiden, The Netherlands.
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MeSH Terms
Acoustic Stimulation / methods
Attention / physiology
Autonomic Nervous System Diseases / enzymology*,  physiopathology,  psychology*
Cognition / physiology*
Cognition Disorders / enzymology*,  physiopathology,  psychology*
Dopamine beta-Hydroxylase / deficiency
Electroencephalography / methods
Neuropsychological Tests*
Norepinephrine / deficiency
Photic Stimulation / methods
Psychomotor Performance / physiology*
Young Adult
Reg. No./Substance:
51-41-2/Norepinephrine; EC beta-Hydroxylase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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