| C.1702C>T Nonsense Mutation in SPAST Gene in Family with Hereditary Spastic Paraplegia |
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Min-Ju Kim, Sa-Yoon Kang |
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Departments of 1Medicine and 2Neurology, Jeju National University School of Medicine, Jeju, Korea |
| 유전강직하반신마비 가족에서 발견된 SPAST 유전자의 c.1702C>T 무의미돌연변이 |
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김민주, 강사윤 |
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제주대학교 의학전문대학원 1의학과, 2신경과학교실 |
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| Abstract |
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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. |
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