유전강직하반신마비 환자에서 발견된 SPAST유전자의 Arg450Cys 돌연변이 = Arg460Cys Mutation in SPAST Gene in Patients with Hereditary Spastic Paraplegia

다국어 초록 (Multilingual 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.

참고문헌 (Reference)

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