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- W2136103601 abstract "Hereditary spastic paraplegia is a group of genetically and clinically heterogeneous neurodegenerative disorder characterized by progressive lower extremity weakness and spasticity. A 49-year-old man presented with progressive gait disturbance. Neurological examination showed spasticity, hyperreflexia in lower extremity and bilateral ankle clonus. He had a family history consistent with autosomal dominant inheritance. Gene testing revealed a heterozygous missense mutation (c.1378C>T [p.Arg460Cys]) in SPAST gene. We report a first Korean family with Arg460Cys mutation in SPAST gene. Key Words: Autosomal dominant, Hereditary, Spastic paraplegia" @default.
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- W2136103601 date "2015-11-01" @default.
- W2136103601 modified "2023-10-17" @default.
- W2136103601 title "Arg460Cys Mutation in SPAST Gene in Patients with Hereditary Spastic Paraplegia" @default.
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- W2136103601 doi "https://doi.org/10.17340/jkna.2015.4.14" @default.
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