Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene
SPAST유전자의 새로운 Thr369Pro돌연변이에 의한 보통염색체우성유전강직하반신마비
이, 성은; 홍, 윤희; 김, 동훈; 이, 진수; 김, 구환; 유, 한욱; 주, 인수
Taehan Sin'gyŏngkwa Hakhoe chi : sin'gyŏnghak, 29(4):365-367, 2011
Taehan Sin'gyŏngkwa Hakhoe chi : sin'gyŏnghak; Journal of the Korean Neurological Association : neurology
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.
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