Clinical, electrophysiological, and neuroimaging characterization of childhood-onset non-5q spinal muscular atrophies: a retrospective pediatric case series

Q: What is the clinical evidence from this study?

Study design: Observational. Population: Childhood-onset non-5q spinal muscular atrophy (n=11).

Beril Dilber; Elif Acar Arslan; Burcu Parıltan Küçükalioğlu; Hasan Meral; Ayberk Türkyılmaz; Safiye Güneş Sağer; Tülay Kamaşak; Emine Tekin; Demir Oguzhan; Ercan Demir

doi:10.1007/s10048-026-00913-3

June 3, 2026NeurogeneticsOpen Access

Clinical, electrophysiological, and neuroimaging characterization of childhood-onset non-5q spinal muscular atrophies: a retrospective pediatric case series

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Key result

Next-generation sequencing reveals pathogenic variants in six rare genes among SMN1-negative SMA-like pediatric patients.

n=11

Study Design

Type

Observational (n=11)

Multicenter

Yes

Structured PICO

P

Population

11 pediatric patients with genetically confirmed variants associated with non-5q SMA (ASCC1, BICD2, VRK1, UBA1, TRPV4, and HEXB) and negative SMN1 testing, presenting with SMA-like phenotypes.

Limitations

Retrospective design may have resulted in incomplete or heterogeneous clinical documentation.
Relatively small sample size limits the ability to draw definitive genotype-phenotype correlations.
Genetic testing in extended family members was not consistently available, restricting the interpretation of inheritance patterns and variable penetrance.
retrospective design
heterogeneous clinical follow-up
limited number of observations
lack of systematic comparison

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Implication

This case series highlights the clinical, genetic, and neuroimaging heterogeneity of non-5q spinal muscular atrophies in children, emphasizing the need for comprehensive genomic and multimodal evaluation in SMN1-negative SMA-like phenotypes.

Abstract

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Cite This Study

Dilber et al. (2026) conducted an observational in Childhood-onset non-5q spinal muscular atrophy (n=11).

synapsesocial.com/papers/6a3c235ad15afadd906fa08c https://doi.org/10.1007/s10048-026-00913-3

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Clinical, electrophysiological, and neuroimaging characterization of childhood-onset non-5q spinal muscular atrophies: a retrospective pediatric case series

Study Design

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Clinical, electrophysiological, and neuroimaging characterization of childhood-onset non-5q spinal muscular atrophies: a retrospective pediatric case series

Study Design

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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