A plain-language summary of a published scientific study. It is educational and does not replace medical advice.
The study: Das N et al., Indian Pediatrics, published online 23 July 2026. A single-centre case series. Only the abstract is freely available.
What the researchers studied
The team followed children with hereditary spastic paraplegia (HSP) confirmed by genetic testing (exome sequencing) who attended a medical genetics clinic in northern India between 2018 and 2023. The children also had neurological and imaging assessments.
What they found
- 21 children from 16 families.
- First symptoms appeared at a median age of 5, and diagnosis came at a median age of 8.
- The most common sign at diagnosis: toe walking, with leg stiffness that was getting worse.
- 18 variants were found in 8 genes; two were "variants of uncertain significance", meaning it is not yet certain whether they cause disease.
- 13 families had an autosomal recessive form, 2 a dominant form and one an X-linked form. The most common subtype was SPG35; SPG4 appeared in one family.
- Five variants had never been described before.
What it means for families
The authors recommend considering HSP in any child whose leg stiffness slowly gets worse, even with no other cases in the family, because the condition can resemble cerebral palsy.
What the study does not tell us yet
The group is small and comes from a single centre. Which types of HSP are more common depends a lot on the population, so the proportions in this study do not necessarily apply to other countries.
References
- 1.
Das N, Shambhavi A, Sait H, et al. (2026). Genotypic and Phenotypic Profile of Hereditary Spastic Paraplegia in Children: A Single-Centre Study from Northern India. Indian Pediatrics (published online 23 July 2026).
PMID 42490029Last verified: 7 November 2026
21 children with HSP in northern India: toe walking was the most common sign at diagnosis.
