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

J Korean Neurol Assoc > Volume 29(4); 2011 > Article

Journal of the Korean Neurological Association 2011;29(4): 365-367.

SPAST유전자의 새로운 Thr369Pro돌연변이에 의한 보통염색체우성유전강직하반신마비

이성은, 이성은 홍윤희 김동훈 이진수 김구환 a 유한욱 a 주인수

아주대학교 의과대학 신경과학교실, 서울아산병원 의학유전학센터 a

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

Sung Eun Yi

Department of Neurology, Ajou University School of Medicine, Suwon, Korea Medical Genetics Center a , Asan Medical Center, Seoul, Korea

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