Evidence map›Paper›PMID 38612382›Full record

ReviewInternational journal of molecular sciences2024

Genetic Update and Treatment for Dystonia.

Jan Koptielow, Emilia Szyłak, Olga Szewczyk-Roszczenko, Piotr Roszczenko, Jan Kochanowicz, Alina Kułakowska, Monika Chorąży

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
–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

11 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Review
  5. The Gut Microbiota Regulates Motor Deficits via Butyrate in a GnalAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026
    Article
  6. Review
  7. Generalized dystonia unraveled: Molecular mechanisms, diagnostic strategies, and treatment paradigms.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  8. Article
  9. Review
  10. Review
  11. Article
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

7 authors.

Jan KoptielowDepartment of Neurology, Medical University of Bialystok, 15-276 Bialystok, Poland.
Emilia SzyłakDepartment of Neurology, Medical University of Bialystok, 15-276 Bialystok, Poland.
Olga Szewczyk-RoszczenkoDepartment of Synthesis and Technology of Drugs, Medical University of Bialystok, Kilinskiego 1, 15-089 Bialystok, Poland.
Piotr RoszczenkoDepartment of Synthesis and Technology of Drugs, Medical University of Bialystok, Kilinskiego 1, 15-089 Bialystok, Poland.ORCID 0000-0001-9180-5901
Jan KochanowiczDepartment of Neurology, Medical University of Bialystok, 15-276 Bialystok, Poland.
Alina KułakowskaDepartment of Neurology, Medical University of Bialystok, 15-276 Bialystok, Poland.
Monika ChorążyDepartment of Neurology, Medical University of Bialystok, 15-276 Bialystok, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A neurological condition called dystonia results in abnormal, uncontrollable postures or movements because of sporadic or continuous muscular spasms. Several varieties of dystonia can impact people of all ages, leading to severe impairment and a decreased standard of living. The discovery of genes causing variations of single or mixed dystonia has improved our understanding of the disease's etiology. Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3. Diagnosis of dystonia is primarily based on clinical symptoms, which can be challenging due to overlapping symptoms with other neurological conditions, such as Parkinson's disease. This review aims to summarize recent advances in the genetic origins and management of focal dystonia.

Indexed as

DystoniaDystonic DisordersParkinson DiseaseAnoctaminsApoptosis Regulatory ProteinsDNA-Binding ProteinsHumansMolecular ChaperonesMovementANO3 protein, humanAnoctaminsApoptosis Regulatory ProteinsDNA-Binding ProteinsMolecular ChaperonesTHAP1 protein, humanTOR1A protein, humanblepharospasmcervical dystoniafocal dystoniaoromandibular dystoniaspasmodic dysphonia

Identifiers

PMID38612382
PMCPMC11011602

What OpenQuestion holds

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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.