Arg460Cys Mutation in SPAST Gene in Patients with Hereditary Spastic Paraplegia

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.