ArticleAnnals of Indian Academy of Neurology
Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children.
Article in Annals of Indian Academy of Neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Genotypic and Phenotypic Profile of Hereditary Spastic Paraplegia in Children: A Single-Centre Study from Northern India.Indian pediatrics · 2026Article
- Article
- Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.Scientific reports · 2021Article
- Recent advances in understanding hereditary spastic paraplegias and emerging therapies.Faculty reviews · 2021Review
- Spastic Paraplegia Type 56 in a Young Child.Indian journal of pediatrics · 2020Article
- Spastic Paraplegia-56 due to a Novel CYP2U1 Truncating Mutation in an Indian Boy: A New Report and Literature Review.Journal of pediatric neurosciencesArticle
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionHereditary spastic paraplegia (HSP) is a group of neurogenetic disorders seen mainly in adults. With the advancement in genetics, more than 78 types of HSP have been identified, with increasing identification of HSP in children. However, there is scant literature on this from India. MATERIALS AND
methodsRetrospective chart review of patients with HSP diagnosed in the last 6 years was done. The data were extracted and analyzed.
resultsA total of 11 patients had a diagnosis of HSP (genetically confirmed), with mean age of presentation at 21.7 months. The main symptom at the time of presentation was delayed walking and/or abnormal gait in the form of tip-toeing and scissoring of limbs. The mean delay in diagnosis was 5.2 years after initial presentation. MRI of the presented children showed mainly thinning of corpus callosum and white-matter changes. All of them had gradual worsening spasticity, despite physiotherapy and drugs. Except one, all children had recessive form of spastic paraplegia. Child with autosomal dominant spastic paraplegia had heterozygous mutation in
conclusionsHSP is probably not uncommon. Recessive form of HSP is more frequently seen in children. Because of lack of awareness, there is delay in reaching the final diagnosis.
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