Evidence map›Paper›PMID 39091421›Full record

ArticleBrain communications2024

Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay.

Daniele De Ritis, Laura Ferrè, Jonathan De Winter, Clémence Tremblay-Desbiens, Mathieu Blais, Maria Teresa Bassi, Nicolas Dupré, Jonathan Baets, Massimo Filippi, Francesca Maltecca

Abstract read
In one paragraph

Article in Brain communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings.Annals of clinical and translational neurology · 2026
    Article
  2. A Novel Exon Duplication in theThe application of clinical genetics · 2025
    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

10 authors.

Daniele De RitisMitochondrial Dysfunctions in Neurodegeneration Unit, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.
Laura FerrèDepartment of Neurology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.
Jonathan De WinterInstitute Born-Bunge and Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.
Clémence Tremblay-DesbiensNeuroscience Axis, CHU de Québec, Université Laval, Quebec City, QC G1V 0A6, Canada.
Mathieu BlaisNeuroscience Axis, CHU de Québec, Université Laval, Quebec City, QC G1V 0A6, Canada.
Maria Teresa BassiLaboratory of Medical Genetics, Scientific Institute, IRCCS E. Medea, 23842 Bosisio Parini, Italy.
Nicolas DupréNeuroscience Axis, CHU de Québec, Université Laval, Quebec City, QC G1V 0A6, Canada.
Jonathan BaetsInstitute Born-Bunge and Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.
Massimo FilippiDepartment of Neurology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.ORCID https://orcid.org/0000-0002-5485-0479
Francesca MalteccaMitochondrial Dysfunctions in Neurodegeneration Unit, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.ORCID https://orcid.org/0000-0001-8095-8208

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disease caused by biallelic variants in the

Indexed as

ARSACSdiagnosisgeneticsneurodegenerationspastic ataxia

Identifiers

PMID39091421
PMCPMC11291951

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.