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References
Fink John K (2014) Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol 126:307–328. doi:10.1007/s00401-013-1115-8
Klebe S, Stevanin G, Depienne C (2015) Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev Neurol 171:505–530. doi:10.1016/j.neurol.2015.02.017
Boukhris A, Feki I, Elleuch N, Miladi MI, Boland-Auge ´A, Truchetto J, Mundwiller E, Jezequel N, Zelenika D, Mhiri C et al (2010) A new locus (SPG46) maps to9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics 11:441–448. doi:10.1007/s10048-010-0249-2
Citterio A, Arnoldi A, Panzeri E, D’Angelo MG et al (2014) Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. J Neurol 261:373–381. doi:10.1007/s00415-013-7206-6
Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K (2014) A novel GBA2 gene missense mutation in spastic ataxia. Ann Hum Genet 78:13–22. doi:10.1111/j.ajhg.2012.12.012
Hammer MB, Eleuch-Fayache G, Schottlaender LV et al (2013) Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet 92:245–251. doi:10.1016/j.ajhg.2012.12.012
Martin E, Schule R, Smets K, Rastetter A, Boukhris A et al (2013) Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet 92:238–244. doi:10.1016/j.ajhg.2012.11.021
Liao SS, Shen L, Du J et al (2008) Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum. J Neurol Sci 275:92–99. doi:10.1016/j.jns.2008.07.038
Liao X, Luo Y, Zhan Z, Du J, Hu Z, Wang J, Guo J, Hu Z, Yan X, Pan Q, Xia K, Tang B, Shen L (2015) SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations. Clin Genet 87:85–89. doi:10.1111/cge.12336
Acknowledgments
We are grateful to all of the subjects for their participation in our study. This work was supported by the National Natural Sciences Foundation of China (No: 30971034, 81171068, 81100845) and the Project in the Major State Basic Research Development Program of China (973 Program) (2011CB510000).
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Yang, YJ., Zhou, ZF., Liao, XX. et al. SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China. J Neurol 263, 2136–2138 (2016). https://doi.org/10.1007/s00415-016-8256-3
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DOI: https://doi.org/10.1007/s00415-016-8256-3