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Article

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

Journal of the neurological sciences - 15 Mar 2010

Lim Jae-Sung, Sung Jung-Joon, Hong Yoon-Ho, Park Seoung-Sup, Park Kyung-Seok, Cha Jeong-In, Lee Jee-Young, Lee Kwang-Woo

Abstract excerpt

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 Korean family with an autosomal dominant-inherited pure HSP. The mutation is located in intron 5, and results in a deletion of the 188bp-sized exon 5. It is likely...

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PMID: 19939411
DOI: 10.1016/j.jns.2009.10.016

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