Evidence map›Paper›PMID 32018151›Full record

ArticleParkinsonism & related disorders2020

Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?

Julien F Bally, David P Breen, Susen Schaake, Joanne Trinh, Aleksandar Rakovic, Christine Klein, Anthony E Lang

Open access · hybridAbstract readCase ReportsLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Parkinsonism & related disorders, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 35% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.

  1. Dopa-responsive dystonia and phenotypes associated with TH gene variants: a systematic review and Mexican case series.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Pooled it
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 4 countries.

Julien F BallyDepartment of Neurology, University of Geneva and University Hospitals of Geneva, Geneva, Switzerland; Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Canada. Electronic address: julien.bally@hcuge.ch.
David P BreenEdmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Canada; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK; Anne Rowling Regenerative Neurology Clinic, University of Edinburgh, Edinburgh, UK; Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
Susen SchaakeInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Joanne TrinhInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Aleksandar RakovicInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Christine KleinInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Anthony E LangEdmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, Canada. Electronic address: lang@uhnresearch.ca.
University of Lübeck · DEToronto Western Hospital · CAUniversity of Geneva · CH

Funding

Wellcome Trust
6 · The paper itself

Abstract

We present a case of mild, adult-onset dopa-responsive dystonia (DRD) with a heterozygous mutation in the tyrosine hydroxylase (TH) gene. We propose that this genetic state may have led to partial enzyme deficiency. Future studies should attempt to identify and characterize the phenotype of other patients with single TH variants.

Indexed as

Dystonic DisordersTyrosine 3-MonooxygenaseAgedHeterozygoteHumansMaleSeverity of Illness IndexTyrosine 3-MonooxygenaseAutosomal recessiveDopa-responsiveDystoniaHeterozygoteTyrosine hydroxylase

Identifiers

PMID32018151
PMCPMC7109519
OpenAlexW3004295541

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.