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Article

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

Neurogenetics - 29 Jul 2026

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42525310
DOI: 10.1007/s10048-026-00923-1

Genes

SMN2
NAIP
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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