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

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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]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.
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  Data: <searchLink fieldCode="AR" term="%22Fei%2C+Q%2E-Z%2E%22">Fei, Q.-Z.</searchLink><br /><searchLink fieldCode="AR" term="%22Tang%2C+W%2E-G%2E%22">Tang, W.-G.</searchLink><br /><searchLink fieldCode="AR" term="%22Rong%2C+T%2E-Y%2E%22">Rong, T.-Y.</searchLink><br /><searchLink fieldCode="AR" term="%22Tang%2C+H%2E-D%2E%22">Tang, H.-D.</searchLink><br /><searchLink fieldCode="AR" term="%22Liu%2C+J%2E-R%2E%22">Liu, J.-R.</searchLink><br /><searchLink fieldCode="AR" term="%22Guo%2C+Z%2E-L%2E%22">Guo, Z.-L.</searchLink><br /><searchLink fieldCode="AR" term="%22Fu%2C+Y%2E%22">Fu, Y.</searchLink><br /><searchLink fieldCode="AR" term="%22Xiao%2C+Q%2E%22">Xiao, Q.</searchLink><br /><searchLink fieldCode="AR" term="%22Wang%2C+X%2E-J%2E%22">Wang, X.-J.</searchLink><br /><searchLink fieldCode="AR" term="%22He%2C+S%2E-B%2E%22">He, S.-B.</searchLink><br /><searchLink fieldCode="AR" term="%22Cao%2C+L%2E%22">Cao, L.</searchLink><br /><searchLink fieldCode="AR" term="%22Chen%2C+S%2E-D%2E%22">Chen, S.-D.</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Sep2011, Vol. 18 Issue 9, p1194-1196. 3p. 1 Chart, 1 Graph.
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  Data: <searchLink fieldCode="DE" term="%22People+with+paraplegia%22">People with paraplegia</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Neurodegeneration%22">Neurodegeneration</searchLink><br /><searchLink fieldCode="DE" term="%22Chinese+people%22">Chinese people</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink>
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  Data: <searchLink fieldCode="DE" term="%22China%22">China</searchLink>
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  Data: 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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  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=64487220
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