Evidence map›Paper›PMID 37152446›Full record

ArticleNeurology. Genetics2023

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.

Nika Schuermans, Hannah Verdin, Jody Ghijsels, Madeleine Hellemans, Elke Debackere, Elke Bogaert, Sofie Symoens, Leslie Naesens, Elien Lecomte, David Crosiers and 11 more

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Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
3.4field-weighted citation impact, top 7% 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.

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3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 11 citations in OpenAlex.

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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

21 authors at 2 institutions in 2 countries.

Nika SchuermansCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Hannah VerdinCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.ORCID https://orcid.org/0000-0002-0258-1000
Jody GhijselsCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Madeleine HellemansCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Elke DebackereCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Elke BogaertCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Sofie SymoensCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Leslie NaesensCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Elien LecomteCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
David CrosiersCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Bruno BergmansCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.ORCID https://orcid.org/0000-0002-1463-8262
Kristof VerhoevenCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Bruce PoppeCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Guy LaureysCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.ORCID https://orcid.org/0000-0002-1708-4373
Sarah HerdewynCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Tim Van LangenhoveCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Patrick SantensCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Jan L De BleeckerCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Dimitri HemelsoetCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.ORCID https://orcid.org/0000-0001-5403-3092
Bart DermautCenter for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.ORCID https://orcid.org/0000-0002-6968-0572
for Program for Undiagnosed Rare Diseases (UD-PrOZA)
Ghent University Hospital · BEGhent University · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Owing to their extensive clinical and molecular heterogeneity, hereditary neurologic diseases in adults are difficult to diagnose. The current knowledge about the diagnostic yield and clinical utility of exome sequencing (ES) for neurologic diseases in adults is limited. This observational study assesses the diagnostic value of ES and multigene panel analysis in adult-onset neurologic disorders. Methods: From January 2019 through April 2022, ES-based multigene panel testing was conducted in 1,411 patients with molecularly unexplained neurologic phenotypes at the Ghent University Hospital. Gene panels were developed for ataxia and spasticity, leukoencephalopathy, movement disorders, paroxysmal episodic disorders, neurodegeneration with brain iron accumulation, progressive myoclonic epilepsy, and amyotrophic lateral sclerosis. Single nucleotide variants, small indels, and copy number variants were analyzed. Across all panels, our analysis covered a total of 725 genes associated with Mendelian inheritance. Results: A molecular diagnosis was established in 10% of the cases (144 of 1,411) representing 71 different monogenic disorders. The diagnostic yield depended significantly on the presenting phenotype with the highest yield seen in patients with ataxia or spastic paraparesis (19%). Most of the established diagnoses comprised disorders with an autosomal dominant inheritance (62%), and the most frequently mutated genes were Discussion: ES and multigene panel testing is a powerful and efficient tool to diagnose patients with unexplained, adult-onset neurologic disorders.

Identifiers

PMID37152446
PMCPMC10160959
OpenAlexW4367058875

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