Evidence map›Paper›PMID 39141064›Full record

ArticleJournal of neurology2024

Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.

Maximilian Wiesenfarth, Yalda Forouhideh-Wiesenfarth, Zeynep Elmas, Özlem Parlak, Ulrike Weiland, Christine Herrmann, Joachim Schuster, Axel Freischmidt, Kathrin Müller, Reiner Siebert and 19 more

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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. An erratum has been issued. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Slowly progressive amyotrophic lateral sclerosis associated with a rare SOD1 Pro67Arg mutation: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  3. Article
  4. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

29 authors.

Maximilian WiesenfarthDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany. maximilian.wiesenfarth@rku.de.ORCID http://orcid.org/0009-0004-0187-5973
Yalda Forouhideh-WiesenfarthDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Zeynep ElmasDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Özlem ParlakDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Ulrike WeilandDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Christine HerrmannDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Joachim SchusterDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Axel FreischmidtDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Kathrin MüllerInstitute of Human Genetics, Ulm University and Ulm University Medical Center, 89081, Ulm, Germany.
Reiner SiebertInstitute of Human Genetics, Ulm University and Ulm University Medical Center, 89081, Ulm, Germany.
Kornelia GüntherDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Elke FröhlichDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Antje KnehrDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Tatiana SimakDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Franziska BachhuberDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Martin RegensburgerDepartment of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.
Susanne PetriDepartment of Neurology, Hannover Medical School, 30625, Hannover, Germany.
Thomas KlopstockDepartment of Neurology with Friedrich-Baur-Institute, LMU University Hospital, LMU Munich, 80336, Munich, Germany.
Peter ReilichDepartment of Neurology with Friedrich-Baur-Institute, LMU University Hospital, LMU Munich, 80336, Munich, Germany.
Florian SchöberlDepartment of Neurology with Friedrich-Baur-Institute, LMU University Hospital, LMU Munich, 80336, Munich, Germany.
Peggy SchumannAmbulanzpartner Soziotechnologie GmbH, 13353, Berlin, Germany.
Peter KörtvélyessyDepartment of Neurology, Center for ALS and other Motor Neuron Disorders, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, 13353, Berlin, Germany.
Thomas MeyerDepartment of Neurology, Center for ALS and other Motor Neuron Disorders, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, 13353, Berlin, Germany.
Wolfgang P RufDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Simon WitzelDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Hayrettin TumaniDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
David BrennerDepartment of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Johannes Dorst *Department of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.
Albert C Ludolph *Department of Neurology, Ulm University, Oberer Eselsberg 45, 89081, Ulm, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in the Cu/Zn superoxide dismutase (SOD1) gene can be detected in approximately 2% of sporadic and 11% of familial amyotrophic lateral sclerosis (ALS) patients in Europe. We analyzed the clinical phenotypes of 83 SOD1-ALS patients focusing on patients carrying the most frequent (likely) pathogenic variants (R116G, D91A, L145F) in Germany. Moreover, we describe the effect of tofersen treatment on ten patients carrying these variants. R116G patients showed the most aggressive course of disease with a median survival of 22.0 months compared to 198.0 months in D91A and 87.0 months in L145F patients (HR 7.71, 95% CI 2.89-20.58 vs. D91A; p < 0.001 and HR 4.25, 95% CI 1.55-11.67 vs. L145F; p = 0.02). Moreover, R116G patients had the fastest median ALSFRS-R progression rate with 0.12 (IQR 0.07-0.20) points lost per month. Median diagnostic delay was 10.0 months (IQR 5.5-11.5) and therefore shorter compared to 57.5 months (IQR 14.0-83.0) in D91A (p < 0.001) and 21.5 months (IQR 5.8-38.8) in L145F (p = 0.21) carriers. As opposed to D91A carriers (50.0%), 96.2% of R116G (p < 0.001) and 100.0% of L145F (p = 0.04) patients reported a positive family history. During tofersen treatment, all patients showed a reduction of neurofilament light chain (NfL) serum levels, independent of the SOD1 variant. Patients with SOD1-ALS carrying R116G, D91A, or L145F variants show commonalities, but also differences in their clinical phenotype, including a faster progression rate with shorter survival in R116G, and a comparatively benign disease course in D91A carriers.

Indexed as

Amyotrophic Lateral SclerosisDisease ProgressionSuperoxide Dismutase-1AdultAgedFemaleGermanyHumansMaleMiddle AgedMutationPhenotypeSOD1 protein, humanSuperoxide Dismutase-1Amyotrophic lateral sclerosisClinical phenotypeMotor neuron diseaseSOD1Tofersen

Identifiers

PMID39141064
PMCPMC11446975

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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.