Evidence map›Paper›PMID 38222898›Full record

ReviewTremor and other hyperkinetic movements (New York, N.Y.)2024

Genetic Testing of Movements Disorders: A Review of Clinical Utility.

Dennis Yeow, Laura I Rudaks, Sue-Faye Siow, Ryan L Davis, Kishore R Kumar

Open access · goldAbstract readReview
In one paragraph

Review in Tremor and other hyperkinetic movements (New York, N.Y.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
5.5field-weighted citation impact, top 4% 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

8 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Observational
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024
    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

5 authors at 2 institutions in 2 countries.

Dennis YeowTranslational Neurogenomics Group, Neurology Department & Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia.ORCID 0000-0001-7534-7007
Laura I RudaksTranslational Neurogenomics Group, Neurology Department & Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia.ORCID 0000-0002-1100-319X
Sue-Faye SiowDepartment of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW, Australia.ORCID 0000-0003-1485-0228
Ryan L DavisRare Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.ORCID 0000-0003-0512-8989
Kishore R KumarTranslational Neurogenomics Group, Neurology Department & Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia.ORCID 0000-0003-3482-6962
The University of Sydney · AURoyal North Shore Hospital · AU

Funding

Paul Ainsworth Family Foundation and Medical Research Future Fund 2023126, 2023357, AND 2024888
6 · The paper itself

Abstract

Currently, pathogenic variants in more than 500 different genes are known to cause various movement disorders. The increasing accessibility and reducing cost of genetic testing has resulted in increasing clinical use of genetic testing for the diagnosis of movement disorders. However, the optimal use case(s) for genetic testing at a patient level remain ill-defined. Here, we review the utility of genetic testing in patients with movement disorders and also highlight current challenges and limitations that need to be considered when making decisions about genetic testing in clinical practice. Highlights: The utility of genetic testing extends across multiple clinical and non-clinical domains. Here we review different aspects of the utility of genetic testing for movement disorders and the numerous associated challenges and limitations. These factors should be weighed on a case-by-case basis when requesting genetic tests in clinical practice.

Indexed as

Genetic TestingMovement DisordersHumansClinical UtilityDiagnosisGeneticsMovement Disorders

Identifiers

PMID38222898
PMCPMC10785957
OpenAlexW4390670984

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.