Evidence map›Paper›PMID 32949189›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2020

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.

Sara Bech, Annemette Løkkegaard, Troels T Nielsen, Anne Nørremølle, Sabine Grønborg, Lis Hasholt, Gudrun K Steffensen, Gabor Graehn, Jess H Olesen, Niels Tommerup and 5 more

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

Article in Movement disorders : official journal of the Movement Disorder Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 32% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Skin Conditions and Movement Disorders: Hiding in Plain Sight.Movement disorders clinical practice · 2022
    Review
  3. 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

15 authors at 3 institutions in 1 country.

Sara BechDepartment of Neurology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0002-3991-5238
Annemette LøkkegaardDepartment of Neurology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark.
Troels T NielsenDanish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Anne NørremølleDepartment of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Sabine GrønborgDepartment of Pediatrics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Lis HasholtDepartment of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Gudrun K SteffensenDepartment of Nephrology, Sygehus Lillebaelt, Kolding Sygehus, Kolding, Denmark.
Gabor GraehnDepartment of Nephrology, Hospital of Southern Denmark, Sønderborg, Denmark.
Jess H OlesenDepartment of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Niels TommerupDepartment of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Yuan MangDepartment of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Mads BakDepartment of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Jørgen E NielsenDanish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Hans EibergDepartment of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Lena E HjermindDanish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
University of Copenhagen · DKKolding Hospital · DKSygehus Sønderjylland · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIn a Danish family, multiple individuals in five generations present with early-onset paroxysmal cranial dyskinesia, musculoskeletal abnormalities, and kidney dysfunction.

objectiveTo demonstrate linkage and to identify the underlying genetic cause of disease.

methodsGenome-wide single-nucleotide polymorphisms analysis, Sequence-Tagged-Site marker analyses, exome sequencing, and Sanger sequencing were performed.

resultsLinkage analyses identified a candidate locus on chromosome 9. Exome sequencing revealed a novel variant in LMX1B present in all affected individuals, logarithm of the odds (LOD) score of z = 6.54, predicted to be damaging. Nail-patella syndrome (NPS) is caused by pathogenic variants in LMX1B encoding a transcription factor essential to cytoskeletal and kidney growth and dopaminergic and serotonergic network development. NPS is characterized by abnormal musculoskeletal features and kidney dysfunction. Movement disorders have not previously been associated with NPS.

conclusionsParoxysmal dyskinesia is a heretofore unrecognized feature of the NPS spectrum. The pathogenic mechanism might relate to aberrant dopaminergic circuits. © 2020 International Parkinson and Movement Disorder Society.

Indexed as

ChoreaNail-Patella SyndromeHumansLIM-Homeodomain ProteinsSkullTranscription FactorsLIM-Homeodomain ProteinsTranscription Factorsdyskinesiadystonianail-patella syndromeparoxysmal dyskinesia

Identifiers

PMID32949189
PMCPMC8151874
OpenAlexW3087008730

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.