J Korean Neurol Assoc.
2015 Nov;33(4):321-323. 10.17340/jkna.2015.4.14.
Arg460Cys Mutation in SPAST Gene in Patients with Hereditary Spastic Paraplegia
- Affiliations
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- 1Department of Neurology, Jeju National University School of Medicine, Jeju, Korea. neurokang@jejunu.ac.kr
- KMID: 2129323
- DOI: http://doi.org/10.17340/jkna.2015.4.14
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.
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