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

作者：Lim Jae Sung; Sung Jung Joon^*; Hong Yoon Ho; Park Seoung Sup; Park Kyung Seok; Cha Jeong In; Lee Jee Young; Lee Kwang Woo

来源：Journal of the Neurological Sciences, 2010, 290(1-2): 186-189.

DOI：10.1016/j.jns.2009.10.016

• SPG4
• Hereditary spastic paraplegia
• Mutation

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.

• 出版日期2010-3-15
• 单位河北医科大学