Evidence map›Paper›PMID 42525310›Full record

ArticleNeurogenetics2026

Retrospective analysis of spinal muscular atrophy in tunisian population: phenotypic-genotypic associations and considerations for therapeutic advancement.

Walid Sabri Hamadou, Abdelbasset Amara, Hamza Chouk, Saoussen Trabelsi, Ayda Bennour, Salma Najar, Malek Hammedi, Amira Benzarti, Dorra H'Mida, Moez Gribaa

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Article in Neurogenetics, 2026. 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
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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

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.

Walid Sabri HamadouHuman Cytogenetics, Molecular Genetics and Reproductive Biology Laboratory, Department of Genetics, FarhatHached University Hospital of Sousse, Sousse, 4000, Tunisia. walidsabrimail@gmail.com.
Abdelbasset AmaraDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Northern Border University, Arar, 91431, Saudi Arabia.
Hamza ChoukHuman Cytogenetics, Molecular Genetics and Reproductive Biology Laboratory, Department of Genetics, FarhatHached University Hospital of Sousse, Sousse, 4000, Tunisia.
Saoussen TrabelsiDepartment of Community Health, Faculty of Applied Medical Sciences, Northern Border University, Arar, 91431, Saudi Arabia.
Ayda BennourHuman Cytogenetics, Molecular Genetics and Reproductive Biology Laboratory, Department of Genetics, FarhatHached University Hospital of Sousse, Sousse, 4000, Tunisia.
Salma NajarHuman Cytogenetics, Molecular Genetics and Reproductive Biology Laboratory, Department of Genetics, FarhatHached University Hospital of Sousse, Sousse, 4000, Tunisia.
Malek HammediHuman Cytogenetics, Molecular Genetics and Reproductive Biology Laboratory, Department of Genetics, FarhatHached University Hospital of Sousse, Sousse, 4000, Tunisia.
Amira BenzartiHuman Cytogenetics, Molecular Genetics and Reproductive Biology Laboratory, Department of Genetics, FarhatHached University Hospital of Sousse, Sousse, 4000, Tunisia.
Dorra H'MidaHuman Cytogenetics, Molecular Genetics and Reproductive Biology Laboratory, Department of Genetics, FarhatHached University Hospital of Sousse, Sousse, 4000, Tunisia.
Moez GribaaHuman Cytogenetics, Molecular Genetics and Reproductive Biology Laboratory, Department of Genetics, FarhatHached University Hospital of Sousse, Sousse, 4000, Tunisia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study retrospectively analyzed 97 Tunisian Spinal Muscular Atrophy (SMA) patients (2008-2024), characterizing their phenotypes, diagnosis age, and consanguinity alongside copy number variations of SMN1, SMN2, NAIP, p44, and H4F5. SMA-I was the most prevalent phenotype (61.86%). We notice a significant male predominance with significant late age of diagnosis. Consanguinity was remarkably high (73.53%) and strongly associated with severe form SMA-I. Genetic analysis confirmed SMN2 and NAIP as key modifiers, where lower copy numbers correlated with increased severity and respiratory complications. With 98% of patients carrying ≥ 2 SMN2 copies, most are eligible for splicing-modifier therapies. Additionally, the prevalence of early-onset SMA-I underscores a promising perspective for gene replacement therapy before irreversible motor neuron loss occurs. SMN2 and NAIP are vital prognostic markers in Tunisia. High consanguinity and gender-based diagnostic delays necessitate urgent newborn screening and early genetic intervention to optimize modern therapy efficacy.

Indexed as

Muscular Atrophy, SpinalAdolescentAdultChildChild, PreschoolConsanguinityDNA Copy Number VariationsFemaleGenetic Association StudiesHumansInfantInfant, NewbornMaleNeuronal Apoptosis-Inhibitory ProteinPhenotypeRetrospective StudiesNAIP protein, humanNeuronal Apoptosis-Inhibitory ProteinSMN1 protein, humanSMN2 protein, humanSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinGene therapyGenetic modifiersPhenotypic-genotypic associationsSpinal muscular atrophyTunisian cohort

Identifiers

PMID42525310

What Socratic holds

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Registered trials

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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 Socratic graph.