Evidence map›Paper›PMID 40088780›Full record

ArticleParkinsonism & related disorders2025

TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism.

Efthymia Kafantari, Victoria J Hernandez, Ján Necpál, Marina Leonidou, Regina Baureder, Carola Hedberg-Oldfors, Robert Jech, Michael Zech, Thomas U Schwartz, Andreas Puschmann

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Parkinsonism & related disorders, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Update on Genetic Chorea.Current neurology and neuroscience reports · 2026
    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

10 authors.

Efthymia KafantariLund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden. Electronic address: Efthymia.Kafantari@med.lu.se.
Victoria J HernandezDepartment of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.
Ján Necpál2nd Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.
Marina LeonidouLund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.
Regina BaurederLund University, Skåne University Hospital, Department of Clinical Sciences Lund, Clinical Neurophysiology, Lund, Sweden.
Carola Hedberg-OldforsDepartment of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Robert JechDepartment of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, 121 08, Prague, Czech Republic.
Michael ZechInstitute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Advanced Study, Technical University of Munich, Garching, Germany.
Thomas U SchwartzDepartment of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.
Andreas PuschmannLund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden; SciLifeLab National Research Infrastructure, Sweden.

Funding

Structure-Function of Nucleo-Cytoplasmic CommunicationR35GM141834 · NIGMS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI SCHWARTZ, THOMAS · 2021 to 2025
$2.0M
NIGMS NIH HHS R35 GM141834
6 · The paper itself

Abstract

Dystonia is a movement disorder characterized by genetic and clinical heterogeneity. A recurring p.(Glu303del)-deletion in TOR1A is a well-established cause for DYT-TOR1A (DYT1), an autosomal dominant early-onset isolated dystonia. TOR1A encodes TorsinA, an AAA + ATPase located in the nuclear envelope. By whole exome analyses of a family with a novel dystonia-hemichorea-/hemiballism phenotype, we identified a TOR1AIP2 NM_001199260.2 c.1234A > G p.(Arg412Gly) variant. The variant is very rare in databases and was absent from whole exome data from >1000 dystonia patients. TOR1AIP2 encodes LULL1, a transmembrane protein that activates TorsinA, and correct interaction between TorsinA and LULL1 is essential for proper nuclear envelope architecture. The p.(Arg412Gly) variant disrupts the binding interface between TorsinA and LULL1 around p.Arg412; this same interface is also impaired in DYT1. Functional analyses via a co-purification assay revealed that interaction between TorsinA-LULL1

Indexed as

ChoreaDyskinesiasDystoniaDystonic DisordersMolecular ChaperonesAdultFemaleHumansMaleMiddle AgedPedigreeMolecular ChaperonesTOR1A protein, humanDystoniaDYT1HemiballismHemichoreaNuclear envelopeStereotypyTOR1AIP2TorsinA

Identifiers

PMID40088780
PMCPMC12983134

What OpenQuestion 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 OpenQuestion graph.