Evidence map›Paper›PMID 33575485›Full record

ArticleNeurology. Genetics2021

V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.

Martin Paucar, Richard Ågren, Tianyi Li, Simon Lissmats, Åsa Bergendal, Jan Weinberg, Daniel Nilsson, Irina Savichetva, Kristoffer Sahlholm, Johanna Nilsson and 1 more

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PubMed Full text at PMC Publisher

In one paragraph

Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it

0cells of the map it votes in

11citing papers in PubMed

1.2field-weighted citation impact, top 25% 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

11 citing papers in PubMed, 15 citations in OpenAlex.

Restoration of Shal/KCellular and molecular life sciences : CMLS · 2025
Article
Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families.Biological research · 2025
Article
A novel KCND3 variant in the N-terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22.Journal of cellular and molecular medicine · 2024
Article
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.American journal of human genetics · 2024
Article
An E280K Missense Variant inInternational journal of molecular sciences · 2023
Article
A Second Case With the V374ANeurology. Genetics · 2022
Article
Fluorescence-Based Measurements of Membrane-Bound Angiotensin Converting Enzyme 2 Activity Using Xenopus Laevis Oocytes.Biosensors · 2022
Article
Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22.Frontiers in molecular neuroscience · 2022
Article
Rare Gain-of-FunctionInternational journal of molecular sciences · 2021
Article
NovelInternational journal of molecular sciences · 2021
Article
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.Neurology. Genetics · 2021
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

11 authors at 1 institution in 1 country.

Martin PaucarDepartment of Clinical Neuroscience (M.P., R.Å., T.L., Å.B., J.N., P.S.), Department of Molecular Medicine and Surgery (D.N.), Center for Molecular Medicine (D.N.), and Science for Life Laboratory (D.N.), Karolinska Institutet (S.L., I.S.), Stockholm; Department of Neurology (M.P., J.W., P.S.), Department of Clinical Genetics (D.N.), Department of Nuclear Medicine (I.S.), and Department of Neurophysiology (J.N.), Karolinska University Hospital (R.Å.), Stockholm; Department of Integrative Medical Biology (K.S.), Umeå University; and Department of Medical Sciences (J.N.), Örebro University, Sweden.ORCID 0000-0003-3735-1480

Richard ÅgrenDepartment of Clinical Neuroscience (M.P., R.Å., T.L., Å.B., J.N., P.S.), Department of Molecular Medicine and Surgery (D.N.), Center for Molecular Medicine (D.N.), and Science for Life Laboratory (D.N.), Karolinska Institutet (S.L., I.S.), Stockholm; Department of Neurology (M.P., J.W., P.S.), Department of Clinical Genetics (D.N.), Department of Nuclear Medicine (I.S.), and Department of Neurophysiology (J.N.), Karolinska University Hospital (R.Å.), Stockholm; Department of Integrative Medical Biology (K.S.), Umeå University; and Department of Medical Sciences (J.N.), Örebro University, Sweden.

Tianyi LiDepartment of Clinical Neuroscience (M.P., R.Å., T.L., Å.B., J.N., P.S.), Department of Molecular Medicine and Surgery (D.N.), Center for Molecular Medicine (D.N.), and Science for Life Laboratory (D.N.), Karolinska Institutet (S.L., I.S.), Stockholm; Department of Neurology (M.P., J.W., P.S.), Department of Clinical Genetics (D.N.), Department of Nuclear Medicine (I.S.), and Department of Neurophysiology (J.N.), Karolinska University Hospital (R.Å.), Stockholm; Department of Integrative Medical Biology (K.S.), Umeå University; and Department of Medical Sciences (J.N.), Örebro University, Sweden.

Simon LissmatsDepartment of Clinical Neuroscience (M.P., R.Å., T.L., Å.B., J.N., P.S.), Department of Molecular Medicine and Surgery (D.N.), Center for Molecular Medicine (D.N.), and Science for Life Laboratory (D.N.), Karolinska Institutet (S.L., I.S.), Stockholm; Department of Neurology (M.P., J.W., P.S.), Department of Clinical Genetics (D.N.), Department of Nuclear Medicine (I.S.), and Department of Neurophysiology (J.N.), Karolinska University Hospital (R.Å.), Stockholm; Department of Integrative Medical Biology (K.S.), Umeå University; and Department of Medical Sciences (J.N.), Örebro University, Sweden.

Åsa BergendalDepartment of Clinical Neuroscience (M.P., R.Å., T.L., Å.B., J.N., P.S.), Department of Molecular Medicine and Surgery (D.N.), Center for Molecular Medicine (D.N.), and Science for Life Laboratory (D.N.), Karolinska Institutet (S.L., I.S.), Stockholm; Department of Neurology (M.P., J.W., P.S.), Department of Clinical Genetics (D.N.), Department of Nuclear Medicine (I.S.), and Department of Neurophysiology (J.N.), Karolinska University Hospital (R.Å.), Stockholm; Department of Integrative Medical Biology (K.S.), Umeå University; and Department of Medical Sciences (J.N.), Örebro University, Sweden.

Jan WeinbergDepartment of Clinical Neuroscience (M.P., R.Å., T.L., Å.B., J.N., P.S.), Department of Molecular Medicine and Surgery (D.N.), Center for Molecular Medicine (D.N.), and Science for Life Laboratory (D.N.), Karolinska Institutet (S.L., I.S.), Stockholm; Department of Neurology (M.P., J.W., P.S.), Department of Clinical Genetics (D.N.), Department of Nuclear Medicine (I.S.), and Department of Neurophysiology (J.N.), Karolinska University Hospital (R.Å.), Stockholm; Department of Integrative Medical Biology (K.S.), Umeå University; and Department of Medical Sciences (J.N.), Örebro University, Sweden.

Daniel NilssonDepartment of Clinical Neuroscience (M.P., R.Å., T.L., Å.B., J.N., P.S.), Department of Molecular Medicine and Surgery (D.N.), Center for Molecular Medicine (D.N.), and Science for Life Laboratory (D.N.), Karolinska Institutet (S.L., I.S.), Stockholm; Department of Neurology (M.P., J.W., P.S.), Department of Clinical Genetics (D.N.), Department of Nuclear Medicine (I.S.), and Department of Neurophysiology (J.N.), Karolinska University Hospital (R.Å.), Stockholm; Department of Integrative Medical Biology (K.S.), Umeå University; and Department of Medical Sciences (J.N.), Örebro University, Sweden.

Irina SavichetvaDepartment of Clinical Neuroscience (M.P., R.Å., T.L., Å.B., J.N., P.S.), Department of Molecular Medicine and Surgery (D.N.), Center for Molecular Medicine (D.N.), and Science for Life Laboratory (D.N.), Karolinska Institutet (S.L., I.S.), Stockholm; Department of Neurology (M.P., J.W., P.S.), Department of Clinical Genetics (D.N.), Department of Nuclear Medicine (I.S.), and Department of Neurophysiology (J.N.), Karolinska University Hospital (R.Å.), Stockholm; Department of Integrative Medical Biology (K.S.), Umeå University; and Department of Medical Sciences (J.N.), Örebro University, Sweden.

Kristoffer SahlholmDepartment of Clinical Neuroscience (M.P., R.Å., T.L., Å.B., J.N., P.S.), Department of Molecular Medicine and Surgery (D.N.), Center for Molecular Medicine (D.N.), and Science for Life Laboratory (D.N.), Karolinska Institutet (S.L., I.S.), Stockholm; Department of Neurology (M.P., J.W., P.S.), Department of Clinical Genetics (D.N.), Department of Nuclear Medicine (I.S.), and Department of Neurophysiology (J.N.), Karolinska University Hospital (R.Å.), Stockholm; Department of Integrative Medical Biology (K.S.), Umeå University; and Department of Medical Sciences (J.N.), Örebro University, Sweden.

Johanna NilssonDepartment of Clinical Neuroscience (M.P., R.Å., T.L., Å.B., J.N., P.S.), Department of Molecular Medicine and Surgery (D.N.), Center for Molecular Medicine (D.N.), and Science for Life Laboratory (D.N.), Karolinska Institutet (S.L., I.S.), Stockholm; Department of Neurology (M.P., J.W., P.S.), Department of Clinical Genetics (D.N.), Department of Nuclear Medicine (I.S.), and Department of Neurophysiology (J.N.), Karolinska University Hospital (R.Å.), Stockholm; Department of Integrative Medical Biology (K.S.), Umeå University; and Department of Medical Sciences (J.N.), Örebro University, Sweden.

Per SvenningssonDepartment of Clinical Neuroscience (M.P., R.Å., T.L., Å.B., J.N., P.S.), Department of Molecular Medicine and Surgery (D.N.), Center for Molecular Medicine (D.N.), and Science for Life Laboratory (D.N.), Karolinska Institutet (S.L., I.S.), Stockholm; Department of Neurology (M.P., J.W., P.S.), Department of Clinical Genetics (D.N.), Department of Nuclear Medicine (I.S.), and Department of Neurophysiology (J.N.), Karolinska University Hospital (R.Å.), Stockholm; Department of Integrative Medical Biology (K.S.), Umeå University; and Department of Medical Sciences (J.N.), Örebro University, Sweden.

Karolinska Institutet · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveAtaxia channelopathies share common features such as slow motor progression and variable degrees of cognitive dysfunction. Mutations in potassium voltage-gated channel subfamily D member 3 (

methodsClinical and psychometric evaluations, neuroimaging, and genotyping of a family (mother and son) affected by ataxia were carried out. Heterozygous and homozygous Kv3.3 A671V and Kv4.3 V374A variants were evaluated in

resultsThe main clinical findings were consistent with adult-onset ataxia with cognitive dysfunction and acetazolamide-responsive paroxysmal motor exacerbations in the index case. Despite cognitive deficits, fluorodeoxyglucose (FDG)-PET displayed hypometabolism mainly in the severely atrophic cerebellum. Genetic analyses revealed the new variant c.1121T>C (V374A) in

conclusionsOur findings suggest that Kv4.3 V374A is likely pathogenic and associated with paroxysmal ataxia exacerbations, a new trait for SCA19/22. The present FDG PET findings contrast with a previous study demonstrating widespread brain hypometabolism in SCA19/22.

Identifiers

PMID33575485

DOI10.1212/NXG.0000000000000546

PMCPMC7862093

OpenAlexW3119281684

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