Arg460Cys Mutation in SPAST Gene in Patients with Hereditary Spastic Paraplegia.
- Author:
Hong Jun KIM
1
;
Chul Hoo KANG
;
Jung Hwan OH
;
Sa Yoon KANG
Author Information
- Publication Type:Case Report
- Keywords: Autosomal dominant; Hereditary; Spastic paraplegia
- MeSH: Ankle; Gait; Humans; Lower Extremity; Middle Aged; Muscle Spasticity; Mutation, Missense; Neurodegenerative Diseases; Neurologic Examination; Paraplegia; Reflex, Abnormal; Spastic Paraplegia, Hereditary*; Wills
- From:Journal of the Korean Neurological Association 2015;33(4):321-323
- CountryRepublic of Korea
- Language:Korean
- 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.
