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

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

doi:10.1016/j.jns.2009.10.016

« Previous Next »Journal of the Neurological Sciences
Volume 290, Issue 1 , Pages 186-189, 15 March 2010

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

Jae-Sung Lim
- Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea
Jung-Joon Sung
- Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea
- Corresponding author. Tel.: +82 2 2072 1015; fax: +82 2 3672 7553.
- Current address: Burnham Center for Neuroscience, Aging, and Stem Cell Research, Burnham Institute for Medical Research, 10901 North Torrey Pines Road, La Jolla, CA 92037, United States. Tel.: +1 619 507 9904; fax: +1 858 795 5273.
Yoon-Ho Hong
- Department of Neurology, Boramae Hospital, Seoul, Republic of Korea
Seoung-Sup Park
- Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Republic of Korea
Kyung-Seok Park
- Department of Neurology, Seoul National University Bundang Hospital, Republic of Korea
Jeong-In Cha
- Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea
Jee-Young Lee
- Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea
Kwang-Woo Lee
- Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea

Received 27 February 2009; received in revised form 10 October 2009; accepted 15 October 2009. published online 26 November 2009.

Abstract

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 188bp-sized exon 5. It is likely that the exon 5 deletion leads to spastin dysfunction and cause the typical symptoms and signs of patients.