Evidence map›Paper›PMID 41312619›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2026

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia.

Rui Zhu, Lang Liu, Mehrdad A Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M Boycott, Nicolas Dupre and 8 more

Erratum issuedAbstract read
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In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors.

Rui ZhuThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.
Lang LiuThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.
Mehrdad A EstiarThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.
Farnaz AsayeshThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.
Jamil AhmadThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.
Meron TeferraThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.
Grace YoonDivisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
Mark TarnopolskyDepartment of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Nicolas DupreNeuroscience Axis, CHU de Québec, Université Laval, Québec City, Québec, Canada.
Patrick A DionThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.
Oksana SuchowerskyDepartment of Medicine (Neurology) and Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Albena JordanovaMolecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Yi-Chung LeeDepartment of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.ORCID https://orcid.org/0000-0003-0102-164X
Giovanni StevaninUniversity of Bordeaux, INCIA, UMR5287, CNRS, EPHE, Bordeaux, France.ORCID https://orcid.org/0000-0001-9368-8657
Stephan ZuchnerDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Guy A RouleauThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.ORCID https://orcid.org/0000-0001-8403-1418
Ziv Gan-OrThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Québec, Canada.ORCID https://orcid.org/0000-0003-0332-234X

Funding

CIHR RN127580-260005
6 · The paper itself

Abstract

backgroundHereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower-limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP.

objectiveThe objective of this study was to assess whether CPT1C loss-of-function (LOF) variants are causally associated with HSP.

methodsWe analyzed whole-genome sequencing data from UK Biobank (UKBB), whole-exome sequencing data from a Canadian HSP cohort (Can-HSP), and genetic data from the GENESIS cohort-a large international cohort of patients with rare hereditary diseases, including HSP.

resultsAmong >170 CPT1C LOF carriers in the UKBB (n = 150,119), none exhibited HSP phenotypes. Among 585 HSP patients from Can-HSP, we did not find patients with CPT1C LOF variants. In the GENESIS cohort (n = 21,217), three individuals carrying CPT1C LOF variants were also diagnosed with HSP; however, all three also carry pathogenic variants in established HSP-associated genes.

conclusionsOur study does not support a causal role for CPT1C LOF variants in HSP. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

Carnitine O-PalmitoyltransferaseLoss of Function MutationSpastic Paraplegia, HereditaryAdultAgedCohort StudiesExome SequencingFemaleHumansMaleMiddle AgedCarnitine O-Palmitoyltransferase

Identifiers

PMID41312619
PMCPMC13022575

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.