Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.

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Bibliographic Details
Title:	Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.
Authors:	Fei, Q.-Z., Tang, W.-G., Rong, T.-Y., Tang, H.-D., Liu, J.-R., Guo, Z.-L., Fu, Y., Xiao, Q., Wang, X.-J., He, S.-B., Cao, L., Chen, S.-D.
Source:	European Journal of Neurology. Sep2011, Vol. 18 Issue 9, p1194-1196. 3p. 1 Chart, 1 Graph.
Subjects:	People with paraplegia, Genetic disorders, Neurodegeneration, Chinese people, Genetic mutation
Geographic Terms:	China
Abstract:	Background and purpose: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative diseases. Mutations in the spastin ( SPG4) gene are responsible for approximately 40% of autosomal dominant HSP (AD-HSP) and 6.5-18% of sporadic cases. Methods: Spastin mutations were screened in 11 AD-HSP families and 11 sporadic cases by direct sequencing and MLPA assay. Novel mutations were detected in 100 healthy controls by PCR-RFLP. Results: We identified seven different spastin mutations in five probands and one sporadic patient. Two of seven mutations were novel. The c.458delT was a pathogenic mutation, but the effect of c.1724 G>T remained unknown. Conclusions: This study allowed us to estimate the frequency of the SPG4 mutations in Chinese at 45% (5/11) in families with AD-HSP and 9% (1/11) in sporadic cases. In addition, our data showed p.T614I was not associated with congenital arachnoid cysts. [ABSTRACT FROM AUTHOR]
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Database:	Psychology and Behavioral Sciences Collection

Description
Abstract:	Background and purpose: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative diseases. Mutations in the spastin ( SPG4) gene are responsible for approximately 40% of autosomal dominant HSP (AD-HSP) and 6.5-18% of sporadic cases. Methods: Spastin mutations were screened in 11 AD-HSP families and 11 sporadic cases by direct sequencing and MLPA assay. Novel mutations were detected in 100 healthy controls by PCR-RFLP. Results: We identified seven different spastin mutations in five probands and one sporadic patient. Two of seven mutations were novel. The c.458delT was a pathogenic mutation, but the effect of c.1724 G>T remained unknown. Conclusions: This study allowed us to estimate the frequency of the SPG4 mutations in Chinese at 45% (5/11) in families with AD-HSP and 9% (1/11) in sporadic cases. In addition, our data showed p.T614I was not associated with congenital arachnoid cysts. [ABSTRACT FROM AUTHOR]
ISSN:	13515101
DOI:	10.1111/j.1468-1331.2011.03358.x