J Korean Neurol Assoc.  2011 Nov;29(4):365-367.

Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene

• Yi SE
• Hong YH
• Kim DH
• Lee JS
• Kim GH
• Yoo HW
• Joo IS

Abstract

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.

Keyword

Hereditary spastic paraplegia; Missense mutation

MeSH Terms

Exons
Heterozygote
Humans
Lower Extremity
Muscle Spasticity
Mutation, Missense
Neurodegenerative Diseases
Spastic Paraplegia, Hereditary