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Background <p>Hereditary spastic paraplegia (HSP) genes are emerging as new causes of neurodevelopmental disorders (NDDs). While the association of intellectual disability and autism spectrum disorder (ASD) with many complex forms of HSP is well established, little is known about a possible association with childhood-onset SPG7.</p> Aim <p>To add new data on the phenotypic spectrum and associated NDDs in childhood-onset HSP.</p> Results <p>We report three patients with biallelic variants in <i>SPG7</i>.&#xa0;Consistent with previous reports, childhood-onset SPG7 manifests as a complex HSP phenotype, with clinical features that largely overlap those of the corresponding adult-onset form. In total, 57 patients with childhood-onset SPG7 have been reported in the literature to date, of whom 17% showed NDDs: intellectual disability and psychomotor delay were the most prevalent, whereas ASD and attention deficit-hyperactivity disorder were uncommon.</p> Conclusion <p>Bi-allelic variants in <i>SPG7</i> are a possible cause of neurodevelopmental disorders, therefore genetic testing in children should also consider genes typically linked to adult-onset motor disorders. The possible role of&#xa0;<i>SPG7</i> in neural development calls for studies in in vivo models of brain development, to open the way for early diagnosis and intervention.</p>

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Neurodevelopmental disorders in childhood-onset hereditary spastic paraplegia type 7: a case series and review of literature

  • 期刊论文

  • 发表日期：

    2026年1月6日

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  • Sara Satolli,
  • Antonio Varone,
  • Francesco Mari,
  • Lorenzo Cipriano,
  • Guja Astrea,
  • Filippo M. Santorelli

摘要

Background

Hereditary spastic paraplegia (HSP) genes are emerging as new causes of neurodevelopmental disorders (NDDs). While the association of intellectual disability and autism spectrum disorder (ASD) with many complex forms of HSP is well established, little is known about a possible association with childhood-onset SPG7.

Aim

To add new data on the phenotypic spectrum and associated NDDs in childhood-onset HSP.

Results

We report three patients with biallelic variants in SPG7. Consistent with previous reports, childhood-onset SPG7 manifests as a complex HSP phenotype, with clinical features that largely overlap those of the corresponding adult-onset form. In total, 57 patients with childhood-onset SPG7 have been reported in the literature to date, of whom 17% showed NDDs: intellectual disability and psychomotor delay were the most prevalent, whereas ASD and attention deficit-hyperactivity disorder were uncommon.

Conclusion

Bi-allelic variants in SPG7 are a possible cause of neurodevelopmental disorders, therefore genetic testing in children should also consider genes typically linked to adult-onset motor disorders. The possible role of SPG7 in neural development calls for studies in in vivo models of brain development, to open the way for early diagnosis and intervention.