Evidence map›Paper›PMID 41500801›Full record

ArticleJournal of neurology, neurosurgery, and psychiatry2026

Spectrum of dominant Charcot-Marie-Tooth disease due to

Christopher J Record, Tiffany Grider, Adriana P Rebelo, Christian Laurini, Mariola Skorupinska, Matt C Danzi, Roy Poh, Pedro J Tomaselli, Rodrigo S Frezatti, Natalia Dominik and 21 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neurology, neurosurgery, and psychiatry, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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

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

31 authors.

Christopher J RecordCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-9802-2683
Tiffany GriderDepartment of Neurology, University of Iowa Health Care Medical Center, Iowa City, Iowa, USA.
Adriana P RebeloDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Christian LauriniNeuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.
Mariola SkorupinskaCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Matt C DanziDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.ORCID http://orcid.org/0000-0003-1568-5965
Roy PohNeurogenetics Laboratory, North Thames Genomics Laboratory Hub, National Hospital for Neurology and Neurosurgery, London, UK.
Pedro J TomaselliDepartment of Neurology, University of Sao Paulo Ribeirao Preto Medical School, Ribeirao Preto, Brazil.
Rodrigo S FrezattiDepartment of Neurology, University of Sao Paulo Ribeirao Preto Medical School, Ribeirao Preto, Brazil.ORCID http://orcid.org/0000-0003-4325-3414
Natalia DominikCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Bianca GroszNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District and Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Melina EllisNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District and Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Kishore R KumarMolecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Concord, New South Wales, Australia.ORCID http://orcid.org/0000-0003-3482-6962
Matthew B HarmsDepartment of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA.ORCID http://orcid.org/0000-0002-3395-1633
Conrad C WeihlDepartment of Neurology, Washington University in Saint Louis School of Medicine, St. Louis, Missouri, USA.ORCID http://orcid.org/0000-0002-3816-6124
Wilson Marques JúniorDepartment of Neurology, University of Sao Paulo Ribeirao Preto Medical School, Ribeirao Preto, Brazil.
Kristl G ClaeysDepartment of Neurology, University Hospitals Leuven, Leuven, Belgium.ORCID http://orcid.org/0000-0001-9937-443X
Julian C BlakeCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
James Kl HoltWalton Centre for Neurology and Neurosurgery, Liverpool, UK.
Astrid WeberLiverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.
Ryan JacobsonDepartment of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.
Richard T DineenDepartment of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.
Yuri M FalzoneNeuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.ORCID http://orcid.org/0000-0003-3233-1907
Stefano C PrevitaliNeuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.ORCID http://orcid.org/0000-0003-2546-4357
Manoj P MenezesTY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Steve VucicBrain and Nerve Research Centre, Concord Hospital, Concord Clinical School, The University of Sydney, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0002-8323-873X
Matilde LauraCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0001-8264-8676
Marina L KennersonNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District and Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-3332-5074
Michael E ShyDepartment of Neurology, University of Iowa Health Care Medical Center, Iowa City, Iowa, USA.
Stephan ZuchnerDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.ORCID http://orcid.org/0000-0002-8498-5235
Mary M ReillyCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK m.reilly@ucl.ac.uk.ORCID http://orcid.org/0000-0003-0686-905X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHeterozygous variants in

methodsPatients were clinically and genetically assessed in sites from Europe, Australia, Brazil and the USA. All patients underwent whole exome or whole genome sequencing. Variants were classified using American College of Medical Genetics and Genomics criteria.

resultsTwenty-three individuals from 13 families carried nine variants classified either as pathogenic/likely pathogenic or variants of uncertain significance segregating in multiple family members, including five novel variants. Forty-eight percent (11/23) were male with a mean age of disease onset of 15.7 years (range 1-45 years). Clinical phenotype varied dramatically with genotype; Arg207His and Ser647Pro caused a severe childhood-onset, sensory and motor, conduction-slowing neuropathy, whereas Gly552Asp caused a mild, adult-onset, sensory-predominant neuropathy, Thr991Ala an infantile-onset motor neuropathy, and the Met282Lys/Gly286Cys locus a complex, axonal neuropathy.

conclusionsHeterozygous variants in

Indexed as

Charcot-Marie-Tooth DiseaseSolute Carrier Family 12AdolescentAdultAge of OnsetChildChild, PreschoolFemaleGenetic Association StudiesHumansInfantK Cl- CotransportersMaleMiddle AgedPedigreePhenotypeK Cl- CotransportersSLC12A6 protein, humanSolute Carrier Family 12CHANNELSGENETICSHMSN (CHARCOT-MARIE-TOOTH)NEUROPATHY

Identifiers

PMID41500801
PMCPMC13018852

What OpenQuestion holds

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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.