Evidence map›Paper›PMID 42786195›Full record

ArticleNPJ Parkinson's disease2026

Unified long-read panel for Parkinson's and repeat expansion disorders.

André Fienemann, Julia C Prietzsche, Joshua Laβ, Christoph Much, Susen Schaake, Theresa Lüth, Carolin Gabbert, Alexander Zimprich, Elisabeth Stögmann, Theresa König and 15 more

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In one paragraph

Article in NPJ Parkinson's disease, 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

25 authors.

André Fienemann *Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID http://orcid.org/0009-0004-9594-3673
Julia C Prietzsche *Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Joshua LaβInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Christoph MuchInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Susen SchaakeInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Theresa LüthInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Carolin GabbertInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Alexander ZimprichDepartment of Neurology, Medical University of Vienna, Vienna, Austria.
Elisabeth StögmannDepartment of Neurology, Medical University of Vienna, Vienna, Austria.ORCID http://orcid.org/0000-0003-4688-8482
Theresa KönigDepartment of Neurology, Medical University of Vienna, Vienna, Austria.
Christos GanosEdmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, ON, Canada.
Tuğçe Gül-DemirkaleSuna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), KUTTAM, School of Medicine, Koç University, İstanbul, Turkey.ORCID http://orcid.org/0000-0002-1818-9839
A Nazlı BaşakSuna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), KUTTAM, School of Medicine, Koç University, İstanbul, Turkey.ORCID http://orcid.org/0000-0001-6977-2517
Roland Dominic G JamoraDepartment of Neurosciences, College of Medicine-Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.ORCID http://orcid.org/0000-0001-5317-7369
Raymond L RosalesDepartment of Neurology and Psychiatry, University of Santo Tomas and the CNS-Metropolitan Medical Center, Manila, Philippines.
Gerard SaranzaDepartment of Neurosciences, College of Medicine-Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.ORCID http://orcid.org/0000-0001-8322-4226
Cid Czarina E DiestaDepartment of Neurosciences, Movement Disorders Clinic, Makati Medical Center, Makati City, Philippines.
Meret MöllerInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Max BorscheInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Teresa KleinzInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID http://orcid.org/0009-0000-6313-7395
Alexander BalckInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID http://orcid.org/0000-0003-3967-0282
Norbert BrüggemannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID http://orcid.org/0000-0001-5969-6899
Philip SeiblerInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.ORCID http://orcid.org/0000-0002-3496-7194
Christine KleinInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Joanne TrinhInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany. joanne.trinh@uni-luebeck.de.

Funding

Deutsche Forschungsgemeinschaft TR 1714/4-1
6 · The paper itself

Abstract

In this study, we designed a gene panel based on Nanopore long-read sequencing using adaptive sampling, targeting n = 564 genes associated with Parkinson's disease (PD) and repeat expansion disorders. We investigated its diagnostic utility in n = 18 patients with (1) pathogenic variants in LRRK2, PRKN, SNCA, and RAB32 (n = 7); (2) idiopathic PD or FTD negative for known genetic causes (n = 3); (3) repeat expansions in ATXN1, ATXN2, ATXN3, C9orf72, DAB1, FGF14, HTT, and TAF1-SVA (n = 8). Three individuals were multiplexed per flow cell, achieving a mean coverage of 24X (SD = ± 9X) per sample. Ultimately, 17/20 (85%; Clopper-Pearson 95% CI: 62-97%) expected pathogenic variants were identified; i.e., an SNCA triplication and two repeat expansions in C9orf72 and TAF1-SVA were missed. Additional variants in STXBP2, AP4S1, RARS2, ALS2, and CNBP were identified in five patients. Adaptive sampling is a versatile genetic diagnostic tool in neurodegenerative disorders, while enabling cost-effective multiplexing. Further validation and improvements in bioinformatic analysis are needed.

Identifiers

PMID42786195
PMCPMC13612410

What Socratic holds

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Registered trials

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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 Socratic graph.