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J Korean Neurol Assoc. 2011;29(4):365-367.
- Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a
Novel Thr369Pro Mutation in SPAST Gene
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Sung Eun Yi
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Department of Neurology, Ajou University School of Medicine, Suwon, Korea
Medical Genetics Center
a
, Asan Medical Center, Seoul, Korea
- SPAST유전자의 새로운 Thr369Pro돌연변이에 의한
보통염색체우성유전강직하반신마비
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이성은, 이성은 홍윤희 김동훈 이진수 김구환
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유한욱
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주인수
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아주대학교 의과대학 신경과학교실, 서울아산병원 의학유전학센터
a
- Abstract
- Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders that are
characterized by progressive spasticity and weakness of both lower extremities. Here we report a novel missense
mutation [c.1105A>C (p.Thr369Pro)] of SPG4 in a Korean family with an autosomal dominant-inherited pure HSP. The
mutation is located in exon 8, and results in a heterozygote of the c.1105A>C mutation. It is likely that the mutation of
exon 8 leads to spastin dysfunction and causes the typical symptoms and signs of HSP. Key Words: Hereditary spastic paraplegia, Missense mutation
Keywords :
- 초록
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