References
Hazan J, Fonknechten N, Mavel D et al (1999) Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 23:296–303
Shoukier M, Neesen J, Sauter SM et al (2009) Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia. Eur J Hum Genet 17(2):187–194
McDermott CJ, Burness CE, Kirby J et al (2009) Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology 67:45–51 (Erratum in: Neurology 2009; 72:1534)
Nielsen JE, Johnsen B, Koefoed P et al (2004) Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. Eur J Neurol 11:817–824
Solowska JM, Baas PW (2015) Hereditary spastic paraplegia SPG4: what is known and not known about the disease. Brain 138(Pt 9):2471–2484
Acknowledgments
This work is supported by Programs for Science and Technology of Binzhou Medical University (Nos. BY2012KJ10 and BY2010KJ025) and Programs for Science and Technology Development of Binzhou (No. 2014ZC0136).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
None of the authors have any conflict of interest to disclose.
Ethical standard
This study was approved by the Ethical Committee of Binzhou Medical University and informed consent was obtained from the family members and control subjects.
Additional information
W. Yuliang and W. Yuan contribute equally to this study.
Rights and permissions
About this article
Cite this article
Yuliang, W., Yuan, W., Xuezhen, W. et al. A novel SPAST frameshift mutation in a Chinese family with hereditary spastic paraplegia. Neurol Sci 38, 365–367 (2017). https://doi.org/10.1007/s10072-016-2712-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10072-016-2712-9