Evidence map›Paper›PMID 36757662›Full record

ArticleCerebellum (London, England)2024

SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?

Luca Marsili, Jennie L Davis, Alberto J Espay, Jonathan Gilthorpe, Chloe Williams, Marcelo A Kauffman, Aleksey Porollo

Abstract readCase Reports
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In one paragraph

Article in Cerebellum (London, England), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Cerebellar ataxia-onset ALS withFrontiers in neurology · 2026
    Article
  2. Article
  3. 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

7 authors.

Luca Marsili *James J. and Joan A. Gardner Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, OH, Cincinnati, USA. luca.marsili@uc.edu.
Jennie L Davis *Valley Neuroscience Institute, University of Washington-Valley Medical Center, Renton, WA, USA.
Alberto J EspayJames J. and Joan A. Gardner Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, OH, Cincinnati, USA.
Jonathan GilthorpeDepartment of Integrative Medical Biology, Umeå University, Umeå, Sweden.
Chloe WilliamsDepartment of Integrative Medical Biology, Umeå University, Umeå, Sweden.
Marcelo A KauffmanConsultorio Y Laboratorio de Neurogenética, Centro Universitario de Neurología José María Ramos Mejía, Buenos Aires, Argentina.
Aleksey PorolloCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a novel superoxide dismutase (SOD1) mutation-associated clinical phenotype of cerebellar ataxia and motor neuron disease with a variant in the ceruloplasmin (Cp) gene, which may have possibly contributed to a multi-factorial phenotype, supported by genetic and protein structure analyses.

Indexed as

Amyotrophic Lateral SclerosisCerebellar AtaxiaMotor Neuron DiseaseCeruloplasminHumansMutationSuperoxide DismutaseSuperoxide Dismutase-1CeruloplasminSOD1 protein, humanSuperoxide DismutaseSuperoxide Dismutase-1Amyotrophic lateral sclerosisCerebellar ataxiaCeruloplasminNeurodegenerationSOD1

Identifiers

PMID36757662

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.