These authors contributed equally to this work.
Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia
Article first published online: 8 FEB 2011
© 2011 The Author(s). European Journal of Neurology © 2011 EFNS
European Journal of Neurology
Volume 18, Issue 9, pages 1194–1196, September 2011
How to Cite
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. and Chen, S.-D. (2011), Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia. European Journal of Neurology, 18: 1194–1196. doi: 10.1111/j.1468-1331.2011.03358.x
- Issue published online: 11 AUG 2011
- Article first published online: 8 FEB 2011
- Received 10 April 2010 Accepted 16 December 2010
- hereditary spastic paraplegia;
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.