Evidence map›Paper›PMID 38058854›Full record

ArticleNeurology. Genetics2023

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Fatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, Corien C Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J de Vries, Birgit Sikkema-Raddatz, Dineke S Verbeek, Helga Westers and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

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 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.9field-weighted citation impact, top 12% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Article
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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

11 authors at 1 institution in 1 country.

Fatemeh GhorbaniFrom the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Eddy N de BoerFrom the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Marloes Benjamins-StokFrom the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Corien C Verschuuren-BemelmansFrom the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Jurjen KnapperFrom the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Jelkje de Boer-BergsmaFrom the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Jeroen J de VriesFrom the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Birgit Sikkema-RaddatzFrom the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Dineke S VerbeekFrom the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Helga WestersFrom the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.ORCID https://orcid.org/0000-0001-8291-5949
Cleo C van DiemenFrom the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.ORCID https://orcid.org/0000-0001-9283-2207
University Medical Center Groningen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of neurodegenerative disorders generally caused by single nucleotide variants (SNVs) or indels in coding regions or by repeat expansions in coding and noncoding regions of SCA genes. Copy number variants (CNVs) have now also been reported for 3 genes- Methods: A cohort of patients with cerebellar ataxia who were referred to the University Medical Center Groningen for SCA genetic diagnostics was selected for this study. Genome-wide single nucleotide polymorphism (SNP) genotyping was performed using the Infinium Global Screening Array. Following data processing, genotyping data were uploaded into NxClinical software to perform CNV analysis per patient and to visualize identified CNVs in 36 genes with allocated SCA symbols. The clinical relevance of detected CNVs was determined using evidence from studies based on PubMed literature searches for similar CNVs and phenotypic features. Results: Of the 338 patients with cerebellar ataxia, we identified putative clinically relevant CNV deletions in 3 patients: an identical deletion encompassing Discussion: We showed that CNVs detectable with the limited resolution of SNP array are a very rare cause of SCA. Nevertheless, we suggest adding CNV analysis alongside SNV analysis to SCA gene diagnostics using next-generation sequencing approaches, at least for

Identifiers

PMID38058854
PMCPMC10696507
OpenAlexW4389342662

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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.