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A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia
- Source :
-
Journal of the Neurological Sciences . Mar2010, Vol. 290 Issue 1/2, p186-189. 4p. - Publication Year :
- 2010
-
Abstract
- 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. [Copyright &y& Elsevier]
Details
- Language :
- English
- ISSN :
- 0022510X
- Volume :
- 290
- Issue :
- 1/2
- Database :
- Academic Search Index
- Journal :
- Journal of the Neurological Sciences
- Publication Type :
- Academic Journal
- Accession number :
- 47829457
- Full Text :
- https://doi.org/10.1016/j.jns.2009.10.016