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

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 domi...

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Bibliographic Details
Published in:Journal of the neurological sciences 2010-03, Vol.290 (1), p.186-189
Main Authors: Lim, Jae-Sung, Sung, Jung-Joon, Hong, Yoon-Ho, Park, Seoung-Sup, Park, Kyung-Seok, Cha, Jeong-In, Lee, Jee-Young, Lee, Kwang-Woo
Format: Article
Language:English
Subjects:
Adenosine Triphosphatases - genetics
Age of Onset
Alternative Splicing - genetics
Asian Continental Ancestry Group
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Disease Progression
DNA Mutational Analysis
Exons
Exons - genetics
Female
Gene Deletion
Genetic Predisposition to Disease - genetics
Hereditary spastic paraplegia
Humans
Inheritance Patterns - genetics
Introns - genetics
Male
Medical sciences
Middle Aged
Mutation
Mutation - genetics
Neurology
Pedigree
Republic of Korea
Spastic Paraplegia, Hereditary - ethnology
Spastic Paraplegia, Hereditary - genetics
Spastic Paraplegia, Hereditary - metabolism
Spastin
SPG4
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Summary: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 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.
ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2009.10.016