Korean Journal of Neuromuscular Disorders ; 9 : 46 - 48, December 2017
C.1702C>T Nonsense Mutation in SPAST Gene in Family with Hereditary Spastic Paraplegia
Min-Ju Kim, BS1, Sa-Yoon Kang, MD2
Departments of 1Medicine and 2Neurology, Jeju National University School of Medicine, Jeju, Korea
Hereditary spastic paraplegia is a heterogeneous group of genetic disorders in which the main feature is progressive spasticity and lower extremity weakness. A 37-year-old man presented with progressive gait disturbance and he had a family history consistent with autosomal dominant inheritance. Gene testing revealed a nonsense mutation (c.1702C>T [p.Arg562Term]) in SPAST gene. We report a first Korean family with Arg562Term mutation in SPAST gene.