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| Korean Journal of Neuromuscular Disorders ; 9 : 46 - 48, December 2017 |
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| C.1702C>T Nonsense Mutation in SPAST Gene in Family with Hereditary Spastic Paraplegia |
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| Min-Ju Kim, BS1, Sa-Yoon Kang, MD2 |
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| Departments of 1Medicine and 2Neurology, Jeju National University School of Medicine, Jeju, Korea |
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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. |
KEYWORDS : Mutation, Muscle Spasticity Muscle Weakness |
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