Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy

The identification of small pathogenic variants in patients with SMA is of paramount importance for enhancing diagnosis and prognosis, deciphering response variations to existing treatments, and designing novel therapies tailored to address these genetic variants. We propose a paradigm shift from current guidelines, particularly for patients with a heterozygous <i>SMN1</i> deletion and a clinically compatible SMA phenotype, especially when reduced SMN transcript levels are evident. In such cases, expedited therapy initiation, including reversible treatments like nusinersen or risdiplam, is recommended without waiting for the completion of the molecular testing, thus minimizing delays in crucial therapeutic interventions.

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Publication Details

Journal
Neurology Genetics
Published
2025-08-27
DOI
https://doi.org/10.1212/nxg.0000000000200286
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
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article

Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy

Valeria Sansone, Francesca Magri, Dario Ronchi, Giacomo P. Comi et al.
Neurology Genetics
Neurogenetic and Muscular Disorders Research
article

Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy

Valeria Sansone, Francesca Magri, Dario Ronchi, Giacomo P. Comi, Delia Gagliardi, Eugenio Maria Mercuri, Stefania Paola Corti, Linda Ottoboni, Megi Meneri, M. Rimoldi, Francesco Danilo Tiziano, Emilio Albamonte
article en

Abstract

The identification of small pathogenic variants in patients with SMA is of paramount importance for enhancing diagnosis and prognosis, deciphering response variations to existing treatments, and designing novel therapies tailored to address these genetic variants. We propose a paradigm shift from current guidelines, particularly for patients with a heterozygous <i>SMN1</i> deletion and a clinically compatible SMA phenotype, especially when reduced SMN transcript levels are evident. In such cases, expedited therapy initiation, including reversible treatments like nusinersen or risdiplam, is recommended without waiting for the completion of the molecular testing, thus minimizing delays in crucial therapeutic interventions.

Neurology GeneticsVol. 11(5)
University of Ferrara (IT), Agostino Gemelli University Polyclinic (IT), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT), Centro Clinico Nemo (IT), University of the Sacred Heart (JP)
Openalex Percentile: Top 70%
Neurogenetic and Muscular Disorders Research
DOIOpen Access PDFOpenAlex
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Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy — Valeria Sansone, Francesca Magri, et al. · Neurology Genetics (2025) | TGRS Research Map | TGRS