Evidence map›Paper›PMID 40149460›Full record

ArticleGenes2025

Phenotypical Characterization of C9ALS Patients from the Emilia Romagna Registry of ALS: A Retrospective Case-Control Study.

Andrea Ghezzi, Giulia Gianferrari, Elisa Baldassarri, Elisabetta Zucchi, Ilaria Martinelli, Veria Vacchiano, Luigi Bonan, Lucia Zinno, Andi Nuredini, Elena Canali and 16 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

26 authors.

Andrea GhezziDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.ORCID 0000-0002-6073-0107
Giulia GianferrariDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.ORCID 0000-0002-4260-0915
Elisa BaldassarriDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Elisabetta ZucchiDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Ilaria MartinelliNeurology Unit, Azienda Ospedaliero Universitaria di Modena, 41126 Modena, Italy.ORCID 0000-0003-2566-3671
Veria VacchianoIRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139 Bologna, Italy.ORCID 0000-0002-3607-2394
Luigi BonanDipartimento di Scienze Biomediche e Neuromotorie, University of Bologna, 40126 Bologna, Italy.
Lucia ZinnoDepartment of Medicine and Surgery, University of Parma, 43121 Parma, Italy.ORCID 0000-0002-2956-7612
Andi NurediniDepartment of Medicine and Surgery, University of Parma, 43121 Parma, Italy.ORCID 0000-0002-4274-1275
Elena CanaliNeurology Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS Reggio Emilia, 42123 Reggio Emilia, Italy.
Matteo GizziDepartment of Neurology, Faenza and Ravenna Hospital, 48121 Ravenna, Italy.
Emilio TerlizziDepartment of Neurology, G. Da Saliceto Hospital, 29121 Piacenza, Italy.
Doriana MediciDepartment of Neurology, Fidenza Hospital, 43036 Fidenza, Italy.
Elisabetta SetteDepartment of Neuroscience and Rehabilitation, St. Anna Hospital, 44124 Ferrara, Italy.
Marco Currò DossiDepartment of Neurology, Infermi Hospital, 47923 Rimini, Italy.
Simonetta MorresiDepartment of Neurology and Stroke Unit, Bufalini Hospital, 47521 Cesena, Italy.
Mario SantangeloDepartment of Neurology, Carpi Hospital, 41014 Modena, Italy.
Alberto PatuelliDepartment of Neurology and Stroke Unit, "Morgagni-Pierantoni" Hospital, 47121 Forlì, Italy.
Marco LongoniDepartment of Neurology and Stroke Unit, "Morgagni-Pierantoni" Hospital, 47121 Forlì, Italy.ORCID 0000-0003-2173-4858
Patrizia De MassisDepartment of Neurology, Imola Hospital, 40026 Bologna, Italy.ORCID 0000-0001-9713-7721
Salvatore FerroDepartment of Hospital Services, Emilia Romagna Regional Health Authority, 40127 Bologna, Italy.
Nicola FiniNeurology Unit, Azienda Ospedaliero Universitaria di Modena, 41126 Modena, Italy.
Cecilia SimoniniNeurology Unit, Azienda Ospedaliero Universitaria di Modena, 41126 Modena, Italy.ORCID 0000-0001-5456-2365
Serena CarraDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.ORCID 0000-0003-0939-0140
Giovanna ZamboniDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Jessica MandrioliDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.ORCID 0000-0002-9244-9782

Funding

Emilia Romagna Regional Health Authority 00000000
6 · The paper itself

Abstract

BACKGROUND/

objectives

methodsIn total, 67 C9ALS patients were compared to 201 nmALS. Clinical data, phenotype, and prognostic factors were analyzed in the two groups and within the C9ALS group after stratification by sex.

resultsC9ALS patients displayed a higher disease progression rate and shorter times to gastrostomy and invasive ventilation, despite no differences in overall survival. Female C9ALS had a more severe bulbar and upper motor neuron involvement compared to males. Cognitive and behavioral symptoms were more common in the C9ALS group, and the former was an independent prognostic factor. Prevalences of, autoimmune diseases, and dyslipidemia were significantly higher among C9ALS patients.

conclusionsIn our dataset, we show an overall increased disease progression rate in C9ALS patients and hint at sex-specific discrepancies in some phenotypical characteristics. We also suggest a possible clinically relevant involvement of

Indexed as

Amyotrophic Lateral SclerosisC9orf72 ProteinAdultAgedCase-Control StudiesDisease ProgressionFemaleHumansItalyMaleMiddle AgedPhenotypePrognosisRegistriesRetrospective StudiesC9orf72 ProteinC9orf72 protein, humanamyotrophic lateral sclerosisC9ORF72clinical featuresphenotypepopulation-based study

Identifiers

PMID40149460
PMCPMC11942173

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.