单位：[1]Department of Neurology, China-Japan Friendship Hospital, 2 Yinghua Dongjie, Hepingli, 100029 Beijing, China.[2]McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL 32610, United States of America.
Background: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by mental retardation. Mutations in the Spastic Paraplegia gene 11 (SPG11) account for a large proportion of ARHSP-TCC cases worldwide. Case presentation: We describe a Chinese family with ARHSP-TCC. Two daughters of this family presented with a spastic gait and cognitive impairment. Brain imaging of the index patient revealed a thin corpus callosum. We performed detailed physical and auxiliary examinations and were able to exclude acquired causes of spastic paraplegia. To determine the causative mutation, we took a candidate gene approach and screened the coding sequence and some flanking intronic sequence of SPG11 by direct Sanger sequencing. We identified two novel compound heterozygous mutations in SPG11 in affected individuals (c.1551_1552delTT, p.Cys518SerfsTer39 and c.5867-1G > T (IVS30-1G > T), p. Thr1956ArgfsTer15). Bioinformatic analysis predicts that these mutations would lead to a loss of protein function due to the truncation of the SPG11 protein. Conclusions: The results of this case report indicate a broader approach to include screening for SPG11 mutations in ARHSP-TCC patients. Our findings enrich the phenotypic spectrum of SPG11 mutations.
基金：
Research Fund of the China-Japan Friendship Hospital [2013-RC-3]
第一作者单位：[1]Department of Neurology, China-Japan Friendship Hospital, 2 Yinghua Dongjie, Hepingli, 100029 Beijing, China.[2]McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL 32610, United States of America.
通讯作者：
推荐引用方式(GB/T 7714)：
Zhang Linwei,McFarland Karen N.,Jiao Jinsong,et al.A case report of SPG11 mutations in a Chinese ARHSP-TCC family[J].BMC NEUROLOGY.2016,16:doi:10.1186/s12883-016-0604-5.
APA：
Zhang, Linwei,McFarland, Karen N.,Jiao, Jinsong&Jiao, Yujuan.(2016).A case report of SPG11 mutations in a Chinese ARHSP-TCC family.BMC NEUROLOGY,16,
MLA：
Zhang, Linwei,et al."A case report of SPG11 mutations in a Chinese ARHSP-TCC family".BMC NEUROLOGY 16.(2016)
