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• W2100205591 abstract "The aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman.This 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.Within 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.The study described clinical features of 74 children with HSP. Autosomal recessive complicated HSP was seen in 81.1% of cases." @default.
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• W2100205591 date "2013-08-01" @default.
• W2100205591 modified "2023-10-17" @default.
• W2100205591 title "Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة" @default.
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• W2100205591 doi "https://doi.org/10.12816/0003258" @default.
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