A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia

被引：3

作者：

Lim, Jae-Sung ^{[1
]}

Sung, Jung-Joon ^{[1
]}

Hong, Yoon-Ho ^{[2
]}

Park, Seoung-Sup ^{[3
]}

Park, Kyung-Seok ^{[4
]}

Cha, Jeong-In ^{[1
]}

Lee, Jee-Young ^{[1
]}

Lee, Kwang-Woo ^{[1
]}

机构：

[1] Seoul Natl Univ Hosp, Dept Neurol, Seoul 110744, South Korea

[2] Boramae Hosp, Dept Neurol, Seoul, South Korea

[3] Seoul Natl Univ Hosp, Dept Lab Med, Seoul 110744, South Korea

[4] Seoul Natl Univ, Bundang Hosp, Dept Neurol, Seoul 151, South Korea

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2010年 / 290卷 / 1-2期

关键词：

SPG4; Hereditary spastic paraplegia; Mutation; GENE;

D O I：

10.1016/j.jns.2009.10.016

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of both lower extremities. Herein, we report a novel splicing mutation (c.870+3A>G) in SPG4 in a Koran family with an autosomal dominant-inherited pure HSP. The mutation is located in intron 5, and results in a deletion of the 188 bp-sized exon 5. It is likely that the exon 5 deletion leads to spastin dysfunction and cause the typical symptoms and signs of patients. (C) 2009 Elsevier B.V. All rights reserved.

引用

页码：186 / 189

页数：4

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A novel splicing mutation (c.870+3A&gt;G) in SPG4 in a Korean family with hereditary spastic paraplegia

A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia