Evidence map›Paper›PMID 24411733›Full record

ArticleNeuron2014

Histidine decarboxylase deficiency causes tourette syndrome: parallel findings in humans and mice.

Lissandra Castellan Baldan, Kyle A Williams, Jean-Dominique Gallezot, Vladimir Pogorelov, Maximiliano Rapanelli, Michael Crowley, George M Anderson, Erin Loring, Roxanne Gorczyca, Eileen Billingslea and 14 more

Erratum issuedOpen access · bronzeAbstract readVideo-Audio Media
In one paragraph

Article in Neuron, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 130 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
130citing papers in PubMed, 2 pooled it
36.4field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

130 citing papers in PubMed, 2 syntheses or guidelines pooled it, 252 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  5. Review
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  10. Sex Differences in Histamine Regulation of Striatal Dopamine.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025
    Article
  11. Science advances · 2025
    Article
  12. Review
  13. Review
  14. Article
  15. Article
  16. Review
  17. Article
  18. Epigenome-wide Association Study for Tic Disorders in Children: A Preliminary Study in Korean Population.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2024
    Article
  19. Effects of a Functional Food Made withFoods (Basel, Switzerland) · 2024
    Article
  20. Article

70 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

24 authors at 5 institutions in 4 countries.

Lissandra Castellan BaldanDepartment of Psychiatry, Yale University School of Medicine.
Kyle A Williams *Department of Psychiatry, Yale University School of Medicine.
Jean-Dominique Gallezot *Department of Diagnostic Radiology, Yale University School of Medicine.
Vladimir Pogorelov *Department of Psychiatry, Yale University School of Medicine.
Maximiliano RapanelliDepartment of Psychiatry, Yale University School of Medicine.
Michael CrowleyDepartment of Child Study Center, Yale University School of Medicine.
George M AndersonDepartment of Child Study Center, Yale University School of Medicine.
Erin LoringDepartment of Child Study Center, Yale University School of Medicine.
Roxanne GorczycaNeuroscience Research Unit, Pfizer, Inc., Cambridge, MA.
Eileen BillingsleaDepartment of Psychiatry, Yale University School of Medicine.
Suzanne WasylinkDepartment of Psychiatry, Yale University School of Medicine.
Kaitlyn E PanzaDepartment of Child Study Center, Yale University School of Medicine.
A Gulhan Ercan-SencicekDepartment of Child Study Center, Yale University School of Medicine.
Kuakarun KrusongDepartment of Psychiatry, Yale University School of Medicine.
Bennett L LeventhalNathan S. Kline Institute for Psychiatric Research.
Hiroshi OhtsuTohoku University, Graduate School of Engineering, Sendai, Japan.
Michael H BlochDepartment of Psychiatry, Yale University School of Medicine.
Zoë A HughesNeuroscience Research Unit, Pfizer, Inc., Cambridge, MA.
John H KrystalDepartment of Psychiatry, Yale University School of Medicine.
Linda MayesDepartment of Psychiatry, Yale University School of Medicine.
Ivan de AraujoDepartment of Psychiatry, Yale University School of Medicine.
Yu-Shin DingDepartment of Diagnostic Radiology, Yale University School of Medicine.
Matthew W StateDepartment of Psychiatry, Yale University School of Medicine.
Christopher PittengerDepartment of Psychiatry, Yale University School of Medicine.
Yale University · USPfizer (United States) · USChulalongkorn University · THNathan Kline Institute for Psychiatric Research · USTohoku University · JP

Funding

YALE UNIVERSITY CLINICAL AND TRANSLATIONAL SCIENCE AWARD PROGRAMUL1RR024139 · NCRR · YALE UNIVERSITY · PI SHERWIN, ROBERT S · 2006 to 2011
$56.8M
Translational Technologies CoreP50AA012870 · NIAAA · YALE UNIVERSITY · PI Matthew J Girgenti · 2001 to 2026
$43.7M
TRAINING PROGRAM IN CHILDHOOD NEUROPSYCHIATRIC DISORDERST32MH018268 · NIMH · YALE UNIVERSITY · PI Michael H Bloch, MICHAEL J CROWLEY · 1985 to 2026
$11.0M
RESEARCH TRAINING - BIOLOGICAL SCIENCEST32MH014276 · NIMH · YALE UNIVERSITY · PI Marina R Picciotto · 1985 to 2026
$7.2M
Research Training for Medical Students & Physician-Scientists in Child PsychiatryR25MH077823 · NIMH · YALE UNIVERSITY · PI ANDRES S MARTIN · 2006 to 2026
$4.0M
The Role of SLITRK1 in Tourette and Related DisordersR01NS056276 · NINDS · YALE UNIVERSITY · PI STATE, MATTHEW W. · 2006 to 2010
$2.1M
Pathophysiologically Realistic Mouse Models of Neuropsychiatric Disease: TouretteR01MH091861 · NIMH · YALE UNIVERSITY · PI PITTENGER, CHRISTOPHER JOHN · 2010 to 2014
$2.0M
Thai-US Drug Dependence Genetics Research Training GrantD43TW006166 · FIC · YALE UNIVERSITY · PI GELERNTER, JOEL · 2002 to 2006
$1.7M
Neuroendocrine, Pharmacology, and Genetics Core ResourcePL1DA024860 · NIDA · YALE UNIVERSITY · PI ANDERSON, GEORGE M · 2007 to 2011
$1.6M
CREB and the molecular underpinnings of habit learningK08MH081190 · NIMH · YALE UNIVERSITY · PI PITTENGER, CHRISTOPHER JOHN · 2008 to 2012
$897k
FIC NIH HHS D43 TW006166FIC NIH HHS D43TW06166NCRR NIH HHS UL1 RR024139NCRR NIH HHS UL1RR024139NIAAA NIH HHS 2P50AA012870NIAAA NIH HHS P50 AA012870NIDA NIH HHS PL1 DA024860NIDA NIH HHS PL1DA024860NIMH NIH HHS K08 MH081190NIMH NIH HHS K08MH081190NIMH NIH HHS R01 MH091861NIMH NIH HHS R01MH091861NIMH NIH HHS R25 MH077823NIMH NIH HHS T32 MH014276NIMH NIH HHS T32MH014276NIMH NIH HHS T32 MH018268NIMH NIH HHS T32MH018268NINDS NIH HHS R01 NS056276NINDS NIH HHS R01NS056276
6 · The paper itself

Abstract

Tourette syndrome (TS) is characterized by tics, sensorimotor gating deficiencies, and abnormalities of cortico-basal ganglia circuits. A mutation in histidine decarboxylase (Hdc), the key enzyme for the biosynthesis of histamine (HA), has been implicated as a rare genetic cause. Hdc knockout mice exhibited potentiated tic-like stereotypies, recapitulating core phenomenology of TS; these were mitigated by the dopamine (DA) D2 antagonist haloperidol, a proven pharmacotherapy, and by HA infusion into the brain. Prepulse inhibition was impaired in both mice and humans carrying Hdc mutations. HA infusion reduced striatal DA levels; in Hdc knockout mice, striatal DA was increased and the DA-regulated immediate early gene Fos was upregulated. DA D2/D3 receptor binding was altered both in mice and in humans carrying the Hdc mutation. These data confirm histidine decarboxylase deficiency as a rare cause of TS and identify HA-DA interactions in the basal ganglia as an important locus of pathology.

Indexed as

AdolescentAdultAmphetamineAnimalsBrainChildDopamine AgonistsDopamine AntagonistsExploratory BehaviorFemaleHistidine DecarboxylaseHumansMaleMaze LearningMiceMice, KnockoutAmphetamineDopamine AgonistsDopamine AntagonistsHistidine DecarboxylasenaxagolideOxazinesRacloprideTryptophan

Identifiers

PMID24411733
PMCPMC3894588
OpenAlexW2112157019

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.