ArticleFrontiers in pediatrics2025
Expansion of the genetic and phenotypic spectrum of hereditary spastic paraplegia caused by
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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8 authors.
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Abstract
Background: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder. Biallelic pathogenic variants in Objective: To further define the clinical and genetic spectrum of Methods: We evaluated a child presenting with global developmental delay and progressive spastic paraplegia. Whole-exome sequencing (WES) was performed, and candidate variants were validated by Sanger sequencing. Clinical features were documented prospectively, and a systematic review of published cases was conducted to assess phenotypic patterns and genotype-phenotype relationships. Results: Consistent with prior reports, the core features of Conclusions: To our knowledge, this is the first reported case of
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