Evidence map›Paper›PMID 38698576›Full record

ArticleMovement disorders clinical practice2024

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

Jonna Komulainen-Ebrahim, Salla M Kangas, Estrella López-Martín, Timothy Feyma, Fernando Scaglia, Beatriz Martínez-Delgado, Outi Kuismin, Maria Suo-Palosaari, Lucinda Carr, Reetta Hinttala and 2 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Movement disorders clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. Case report: A novelFrontiers in psychiatry · 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

12 authors.

Jonna Komulainen-EbrahimResearch Unit of Clinical Medicine, University of Oulu, Oulu, Finland.ORCID https://orcid.org/0000-0002-3876-9830
Salla M KangasResearch Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
Estrella López-MartínInstitute of Rare Diseases Research, Instituto de Salud Carlos III, Madrid, Spain.
Timothy FeymaGillette Children's Specialty Healthcare, Saint Paul, Minnesota, USA.
Fernando ScagliaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Beatriz Martínez-DelgadoInstitute of Rare Diseases Research, Instituto de Salud Carlos III, Madrid, Spain.
Outi KuisminResearch Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
Maria Suo-PalosaariMedical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland.
Lucinda CarrDepartment of Neurology, Great Ormond Street Hospital, London, United Kingdom.
Reetta HinttalaResearch Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
Manju A KurianDepartment of Neurology, Great Ormond Street Hospital, London, United Kingdom.ORCID https://orcid.org/0000-0003-3529-5075
Johanna UusimaaResearch Unit of Clinical Medicine, University of Oulu, Oulu, Finland.

Funding

The North American Mitochondrial Disease Consortium (NAMDC)U54NS078059 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HIRANO, MICHIO · 2011 to 2023
$17.5M
Pilot and Feasibility CoreU54NS115198 · NINDS · MAYO CLINIC ROCHESTER · PI MORAVA-KOZICZ, EVA · 2019 to 2023
$8.2M
Phase 3 Trial of DCA in PDC Deficiency IND 028,625 (02/04/2015)R01FD005407 · FDA · UNIVERSITY OF FLORIDA · PI STACPOOLE, PETER WALLACE, THOMPSON, JOHN L · 2016 to 2022
$2.0M
Arvo ja Lea Ylppö Säätiö, Helsinki, FinlandAstellas PharmaceuticalsCLC NIH HHS 5U54-NS078059CLC NIH HHS 5U54-NS115198 03FDA HHS 5R01-FD005407FDA HHS R01 FD005407Instituto de Salud Carlos III PTC20CIII/00009Lastentautien TutkimussäätiöMedical Research Council MR/S020136/1National Institute for Health and Care Research NIHR-RP_2016-07-019NINDS NIH HHS U54 NS078059NINDS NIH HHS U54 NS115198Oulun Yliopistollinen SairaalaPohjois-Pohjanmaan Rahasto 60152194PTC TherapeuticsResearch Council of Finland 331 436Rosetrees Trust CF2/100018Sir Jules Thorn Charitable Trust JTA-017Stiftelsen Alma och K. A. Snellman SäätiöUniversity of Oulu and Academy of Finland profiling program #311934
6 · The paper itself

Abstract

backgroundGenetic syndromes of hyperkinetic movement disorders associated with epileptic encephalopathy and intellectual disability are becoming increasingly recognized. Recently, a de novo heterozygous NACC1 (nucleus accumbens-associated 1) missense variant was described in a patient cohort including one patient with a combined mitochondrial oxidative phosphorylation (OXPHOS) deficiency.

objectivesThe objective is to characterize the movement disorder in affected patients with the recurrent c.892C>T NACC1 variant and study the NACC1 protein and mitochondrial function at the cellular level.

methodsThe movement disorder was analyzed on four patients with the NACC1 c.892C>T (p.Arg298Trp) variant. Studies on NACC1 protein and mitochondrial function were performed on patient-derived fibroblasts.

resultsAll patients had a generalized hyperkinetic movement disorder with chorea and dystonia, which occurred cyclically and during sleep. Complex I was found altered, whereas the other OXPHOS enzymes and the mitochondria network seemed intact in one patient.

conclusionsThe movement disorder is a prominent feature of NACC1-related disease.

Indexed as

HyperkinesisChildFemaleHumansMaleMitochondriaMutation, MissenseNeoplasm ProteinsOxidative PhosphorylationRepressor ProteinsNACC1 protein, humanNeoplasm ProteinsRepressor Proteinscyclichyperkineticmovement disorderNACC1

Identifiers

PMID38698576
PMCPMC11145100

What Socratic holds

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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 Socratic graph.