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KMID : 0359720110290040365
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Journal of the Korean Neurological Association
2011 Volume.29 No. 4 p.365 ~ p.367
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Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene
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Lee Sung-Eun
Hong Yoon-Hee
Kim Dong-Hoon
Lee Jin-Soo
Kim Gu-Hwan
Yoo Han-Wook
Joo In-Soo
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Abstract
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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
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KEYWORD
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Hereditary spastic paraplegia, Missense mutation
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