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Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene

Other Title
SPAST유전자의 새로운 Thr369Pro돌연변이에 의한 보통염색체우성유전강직하반신마비
Authors
이, 성은 | 홍, 윤희 | 김, 동훈 | 이, 진수  | 김, 구환 | 유, 한욱 | 주, 인수
Citation
Journal of the Korean Neurological Association, 29(4). : 365-367, 2011
Journal Title
Journal of the Korean Neurological Association
ISSN
1225-70442288-985X
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.
Keywords

Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Neurology
Ajou Authors
이, 진수  |  주, 인수
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