Evidence map›Paper›PMID 39666145›Full record

ArticleJournal of neurology2024

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.

Tim Lukas Elter, Daniel Sturm, Magda M Santana, Tamara Schaprian, Mafalda Raposo, Ana Rosa Vieira Melo, Manuela Lima, Berkan Koyak, Demet Oender, Marcus Grobe-Einsler and 20 more

Abstract read
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In one paragraph

Article in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

30 authors.

Tim Lukas Elter *German Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany. Tim-lukas.elter@dzne.de.ORCID http://orcid.org/0009-0009-7282-1012
Daniel Sturm *Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Magda M SantanaCenter for Neuroscience and Cell Biology (CNC), University of Coimbra, Coimbra, Portugal.ORCID http://orcid.org/0000-0003-4076-7516
Tamara SchaprianInstitute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Mafalda RaposoIBMC - Instituto de Biologia Molecular e Celular, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.ORCID http://orcid.org/0000-0001-6899-0352
Ana Rosa Vieira MeloFaculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.ORCID http://orcid.org/0000-0002-1759-762X
Manuela LimaFaculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.ORCID http://orcid.org/0000-0002-3357-3273
Berkan KoyakGerman Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany.
Demet OenderGerman Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany.
Marcus Grobe-EinslerGerman Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany.
Sara LopesIBMC - Instituto de Biologia Molecular e Celular, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
Patrick SilvaIBMC - Instituto de Biologia Molecular e Celular, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.ORCID http://orcid.org/0000-0002-5436-8949
Luís Pereira de AlmeidaIBMC - Instituto de Biologia Molecular e Celular, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.ORCID http://orcid.org/0000-0001-5831-3307
Paola GiuntiAtaxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.ORCID http://orcid.org/0000-0003-3508-4788
Hector Garcia-MorenoAtaxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Suran NethisinheAtaxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Jeroen de VriesUniversity Medical Center Groningen, Neurology, Groningen, The Netherlands.
Bart P van de WarrenburgDepartment of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Judith van GaalenDepartment of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Matthis SynofzikDivision Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-2280-7273
Ludger SchölsDivision Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0001-7774-5025
Kathrin ReetzDepartment of Neurology, RWTH Aachen University, Aachen, Germany.ORCID http://orcid.org/0000-0002-9730-9228
Friedrich ErdlenbruchDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, University of Duisburg, Essen, Germany.
Heike JacobiDepartment of Neurology, University Hospital of Heidelberg, Heidelberg, Germany.
Jon InfanteUniversity Hospital Marqués de Valdecilla-IDIVAL, Santander, Spain.
Olaf RiessInstitute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.ORCID http://orcid.org/0000-0002-7011-1369
Thomas KlockgetherGerman Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany.
ESMI study group
Jennifer Faber *German Center for Neurodegenerative Diseases, Clinical Research, Venusberg-Campus 1/99, 53127, Bonn, Germany.ORCID http://orcid.org/0000-0003-3265-0262
Jeannette Hübener-Schmid *Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.ORCID http://orcid.org/0000-0002-4973-0923

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionKnowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in Spinocerebellar Ataxia Type 3, the most common autosomal dominantly inherited ataxia. Single nucleotide polymorphisms associated to the disease-causing gene, ATXN3, have been determined. We wanted to investigate the frequency and regional distribution of two intragenic single nucleotide polymorphisms (SNPs) in a large European SCA3 cohort and their relation to the clinical phenotype.

methodsThe genotypes of the two polymorphisms at base pair positions 987 and 1118 of the ATXN3 were determined for their co-localization on the normal and expanded allele, respectively, in 286 SCA3 mutation carriers and 117 healthy controls from 11 European sites.

resultsThe distribution of genotypes on the expanded allele differed from those of the wildtype allele of SCA3 mutation carriers and of healthy controls, and was mainly influenced by the regional origin. In our cohort, no particular clinical phenotype was associated with any specific haplotype.

conclusionsOur results confirm distinct allocations of SNPs associated to the expanded ATXN3, and accordingly the consideration of allele-specific therapies.

Indexed as

Ataxin-3Machado-Joseph DiseaseNerve Tissue ProteinsPolymorphism, Single NucleotideRepressor ProteinsAdultAgedCohort StudiesFemaleGene FrequencyGenotypeHaplotypesHumansMaleMiddle AgedNuclear ProteinsAtaxin-3ATXN3 protein, humanNerve Tissue ProteinsNuclear ProteinsRepressor ProteinsASOATXN3PolymorphismSCA3SNPSpinocerebellar ataxia

Identifiers

PMID39666145
PMCPMC11638412

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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.