title: A case report of SPG11 mutations in a Chinese ARHSP-TCC family.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Department of Neurology, China-Japan Friendship Hospital, 2 Yinghua Dongjie, Hepingli, 100029, Beijing, China.|McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, 32610, United States of America.
authors.forename: Linwei
authors.initials: L
authors.lastname: Zhang
authors.affiliation: McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, 32610, United States of America.
authors.forename: Karen N
authors.initials: KN
authors.lastname: McFarland
authors.affiliation: Department of Neurology, China-Japan Friendship Hospital, 2 Yinghua Dongjie, Hepingli, 100029, Beijing, China.
authors.forename: Jinsong
authors.initials: J
authors.lastname: Jiao
authors.affiliation: Department of Neurology, China-Japan Friendship Hospital, 2 Yinghua Dongjie, Hepingli, 100029, Beijing, China. jiao.yujuan@hotmail.com.
authors.forename: Yujuan
authors.initials: Y
authors.lastname: Jiao
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D003337:Corpus Callosum / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
chemical_list: D011506:Proteins; C520412:SPG11 protein, human
keywords: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSP-TCC); Gene mutation; Heterozygous mutations; SPG11