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Background <p>Hereditary Spastic Paraplegia with Thin Corpus Callosum (HSP-TCC) linked to SPG11 mutations represents a significant subtype of complex HSP. While numerous SPG11 variants have been reported globally, the genetic spectrum continues to expand, particularly in underrepresented populations. Novel variants contribute to our understanding of genotype–phenotype correlations and improve diagnostic accuracy.</p> Case presentation <p>A 34-year-old male presented with progressive spastic paraplegia developing over 8&#xa0;years. Brain MRI revealed characteristic thin corpus callosum. Despite no family history of similar conditions, genetic analysis identified two heterozygous variants in the SPG11 gene: a previously reported frameshift deletion c.733_734delAT (p.Met245Valfs*2) in exon 4 and a novel splice donor site variant c.3038+1G&gt;A in intron 16. The clinical presentation and genetic findings established the diagnosis of SPG11-related HSP-TCC.</p> Conclusions <p>This case report identifies a novel splice site mutation in SPG11, expanding the known genotypic spectrum of HSP-TCC. The absence of family history suggests either de novo mutations or reduced penetrance, highlighting the importance of genetic testing in sporadic cases of spastic paraplegia with thin corpus callosum. This finding contributes to the growing database of SPG11 variants and enhances our understanding of the genetic basis of HSP in the Indian population.</p>

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Hereditary spastic paraplegia with novel SPG11 mutation from India: expanding the genotypic spectrum

  • 期刊论文

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  • 发表日期：

    2025年9月20日

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  • Abhishek Dixit

摘要

Background

Hereditary Spastic Paraplegia with Thin Corpus Callosum (HSP-TCC) linked to SPG11 mutations represents a significant subtype of complex HSP. While numerous SPG11 variants have been reported globally, the genetic spectrum continues to expand, particularly in underrepresented populations. Novel variants contribute to our understanding of genotype–phenotype correlations and improve diagnostic accuracy.

Case presentation

A 34-year-old male presented with progressive spastic paraplegia developing over 8 years. Brain MRI revealed characteristic thin corpus callosum. Despite no family history of similar conditions, genetic analysis identified two heterozygous variants in the SPG11 gene: a previously reported frameshift deletion c.733_734delAT (p.Met245Valfs*2) in exon 4 and a novel splice donor site variant c.3038+1G>A in intron 16. The clinical presentation and genetic findings established the diagnosis of SPG11-related HSP-TCC.

Conclusions

This case report identifies a novel splice site mutation in SPG11, expanding the known genotypic spectrum of HSP-TCC. The absence of family history suggests either de novo mutations or reduced penetrance, highlighting the importance of genetic testing in sporadic cases of spastic paraplegia with thin corpus callosum. This finding contributes to the growing database of SPG11 variants and enhances our understanding of the genetic basis of HSP in the Indian population.