Evidence map›Paper›PMID 38049694›Full record

ArticleCerebellum (London, England)2024

Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia.

Marta Sequeira, Filipe Godinho, João Lourenço

Abstract readCase Reports
PubMed Publisher
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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

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

3 authors.

Marta SequeiraNeurology Department, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal. martasequeira117@gmail.com.
Filipe GodinhoNeurology Department, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal.
João LourençoNeurology Department, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder that affects upper and lower motor neurons. SOD1 mutations are the second most commonly found in familial and sporadic cases. We describe a patient with a homozygous pathogenic mutation in SOD1 gene that presented with a progressive cerebellar ataxia and ultimately developed a complex phenotype of cerebellar ataxia and motor neuron disease. The linkage between the cerebellum and ALS is shortly discussed.

Indexed as

Amyotrophic Lateral SclerosisCerebellar AtaxiaMutationSuperoxide DismutaseSuperoxide Dismutase-1FemaleHumansMaleMiddle AgedSOD1 protein, humanSuperoxide DismutaseSuperoxide Dismutase-1Amyotrophic lateral sclerosisCerebellar ataxiaCerebellumSOD1

Identifiers

PMID38049694

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.