Evidence map›Paper›PMID 29405179›Full record

ArticleMedical science monitor : international medical journal of experimental and clinical research2018

Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.

Kunfang Yang, Rongrong Yin, Xiaoping Lan, Yuanfeng Zhang, Hongyi Cheng, Simei Wang, Chunmei Wang, Yanfen Lu, Jiaming Xi, Qin Lu and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Medical science monitor : international medical journal of experimental and clinical research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Segawa Syndrome, a Dramatic Response to Dopamine.Case reports in neurological medicine · 2024
    Article
  3. Article
  4. Segawa syndrome caused byFrontiers in genetics · 2022
    Article
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Kunfang YangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).
Rongrong YinDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).
Xiaoping LanClinical Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).
Yuanfeng ZhangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).
Hongyi ChengDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).
Simei WangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).
Chunmei WangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).
Yanfen LuDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).
Jiaming XiDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).
Qin LuDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).
Jianjun HuangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).
Yucai ChenDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China (mainland).

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND This study aimed to clarify the diagnosis and expand the understanding of dopa-responsive dystonia (DRD). MATERIAL AND METHODS Relevant data from clinical diagnoses and genetic mutational analyses in 3 Han Chinese patients with sporadic DRD were collected and analyzed. Protein structure/function was predicted. RESULTS One novel mutation of c.679A>G (p.T227A) in GCH1 and 3 known mutations of c.457C>T (p.R153X), c.739G>A (p.G247S), and c.698G>A (p.R227H) in tyrosine hydroxylase (TH) have been found and predicted to be damaging or deleterious. All of the mutations were localized in conserved sequences. The iterative threading assembly refinement (I-TASSER) server generated three-dimensional (3D) atomic models based on protein sequences from the novel nonsense mutation of c.679A>G (p.T227A) in GCH1, which showed that residue 227 was located in the GCH1 active site. CONCLUSIONS Patients carrying different non-synonymous variants had remarkable variation in clinical phenotype. This study expands the spectrum of genotypes and phenotypes of DRD in the Han Chinese ethnicity, provides new insights into the molecular mechanism of DRD, and helps the diagnosis and treatment of DRD.

Indexed as

Asian PeopleChildDystonic DisordersEthnicityFemaleGTP CyclohydrolaseHeterozygoteHumansInfantMaleMetabolomeMutationPedigreeTyrosine 3-MonooxygenaseGTP CyclohydrolaseTyrosine 3-Monooxygenase

Identifiers

PMID29405179
PMCPMC5810615

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Registered trials

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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.