ArticleSultan Qaboos University medical journal2013
Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.
Article in Sultan Qaboos University medical journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 11 citations in OpenAlex.
- A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.Neurogenetics · 2024Review
- Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.Scientific reports · 2021Article
- A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.Journal of neurology · 2016Article
- Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children.Annals of Indian Academy of NeurologyArticle
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman.
methodsThis retrospective study was carried out between January 1994 and August 2011 on children with delayed development, gait disorders and motor handicaps, with signs of symmetrical pyramidal tract involvement. A detailed perinatal and family history, including the age of onset of symptoms, was recorded. The children were labelled as having either the pure or complicated form of HSP based on the established diagnostic criteria. In families with more than one affected child, parents and all other siblings were also examined.
resultsWithin the study, 74 children from 31 families were diagnosed with HSP. Parental consanguinity was seen in 91% of cases, with 44 children (59.4%) experiencing onset of the disease under one year of age. Complicated HSP was the most common type, seen in 81.1%. Speech involvement, mental retardation, and epilepsy were the most common associated abnormalities. Nonspecific white matter changes and corpus callosum abnormalities were noted in 24.3% of cases on magnetic resonance imaging.
conclusionThe study described clinical features of 74 children with HSP. Autosomal recessive complicated HSP was seen in 81.1% of cases.
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