Evidence map›Paper›PMID 40585211›Full record

ArticleResearch square2025

Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy.

Florian Gerstner, Sandra Wittig, Christian Menedo, Sayan Ruwald, Maria J Carlini, Adela Vankova, Leonie Sowoidnich, Gerardo Martín-López, Vanessa Dreilich, Andrea Alonso Collado and 10 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Research square, 2025. 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

5 · Who and what money

Authors and funding

20 authors.

Florian GerstnerCarl-Ludwig-Institute for Physiology, Leipzig University, Leipzig, 04103, Germany.ORCID 0000-0001-6529-1660
Sandra WittigCarl-Ludwig-Institute for Physiology, Leipzig University, Leipzig, 04103, Germany.
Christian MenedoCarl-Ludwig-Institute for Physiology, Leipzig University, Leipzig, 04103, Germany.
Sayan RuwaldCarl-Ludwig-Institute for Physiology, Leipzig University, Leipzig, 04103, Germany.
Maria J CarliniDepartment of Neurology, Columbia University, New York, NY, 10032, USA.
Adela VankovaCarl-Ludwig-Institute for Physiology, Leipzig University, Leipzig, 04103, Germany.
Leonie SowoidnichCarl-Ludwig-Institute for Physiology, Leipzig University, Leipzig, 04103, Germany.
Gerardo Martín-LópezCarl-Ludwig-Institute for Physiology, Leipzig University, Leipzig, 04103, Germany.
Vanessa DreilichCarl-Ludwig-Institute for Physiology, Leipzig University, Leipzig, 04103, Germany.
Andrea Alonso ColladoCarl-Ludwig-Institute for Physiology, Leipzig University, Leipzig, 04103, Germany.
John G PagiazitisDepartment of Neurology, Columbia University, New York, NY, 10032, USA.
Oumayma AousjiDepartment of Neurology, Center for Biomedical Research (ZBF), Ulm University, Ulm, 89081, Germany.
Chloe GrzybCarl-Ludwig-Institute for Physiology, Leipzig University, Leipzig, 04103, Germany.
Amy SmithDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Mu YangMouse Neurobehavioral Core Facility, Columbia University, New York, NY, 10032, USA.ORCID 0000-0002-1530-829X
Francesco RoselliDepartment of Neurology, Center for Biomedical Research (ZBF), Ulm University, Ulm, 89081, Germany.ORCID 0000-0001-9935-6899
George Z MentisDepartment of Neurology, Columbia University, New York, NY, 10032, USA.
Charlotte J SumnerDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.ORCID 0000-0001-5088-6012
Livio PellizzoniDepartment of Neurology, Columbia University, New York, NY, 10032, USA.ORCID 0000-0002-9168-5628
Christian M SimonCarl-Ludwig-Institute for Physiology, Leipzig University, Leipzig, 04103, Germany.

Funding

RNA-Mediated Mechanisms of Motor System Dysfunction in Spinal Muscular AtrophyR01NS102451 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Livio Pellizzoni · 2017 to 2026
$3.9M
Essential role of Stasimon in motor circuit development and diseaseR01NS114218 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI PELLIZZONI, LIVIO · 2020 to 2024
$2.9M
Mechanisms and Therapeutic Targeting of Motor Neuron Death in SMAR01NS116400 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI PELLIZZONI, LIVIO · 2020 to 2024
$2.3M
NINDS NIH HHS R01 NS102451NINDS NIH HHS R01 NS114218NINDS NIH HHS R01 NS116400
6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by ubiquitous SMN deficiency and loss of motor neurons. The persistence of motor and communication impairments, together with emerging cognitive and social deficits in severe Type I SMA patients treated early with SMN-restoring therapies, suggests a broader dysfunction involving neural circuits of the brain. To explore the potential supraspinal contributions to these emerging phenotypes, we investigated the cerebellum, a brain region critical for both motor and cognitive behaviors. Here, we identify cerebellar pathology in both

Identifiers

PMID40585211
PMCPMC12204378

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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.