title: Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.
abstract: Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is one of the most common complicated forms of autosomal recessive hereditary spastic paraplegia (HSP). Mutation in SPG11 gene, which is mapped to chromosome 15q21, was recently found to be a major cause of this variant form of HSP. The aim of this study is to investigate SPG11 mutations and clinical manifestations in two Korean families with HSP-TCC. Direct sequencing of the 40 coding exons and boundaries of exon-intron in SPG11 gene, and descriptions of clinical findings in two nonconsanguineous families with HSP-TCC are presented. Three novel and one known compound heterozygous mutations were found in two affected families, which were not found in controls, including one deletion in exon (c.5410_5411delTG), two insertions (c.1834_1835InsT and c.2163_2164InsT), and one missense mutation (c.3291+1G>T). Both of our patients had impairments in frontal lobe functions. We present the first SPG11 mutations in Korean families, three of which are novel. SPG11 mutation should be suspected in Korean patients having HSP with TCC and executive dysfunction.
authors.affiliation: Department of Neurology, College of Medicine, Seoul National University, Seoul, Korea.
authors.forename: Sung-Min
authors.initials: SM
authors.lastname: Kim
authors.forename: Jeong-Seon
authors.initials: JS
authors.lastname: Lee
authors.forename: Suhyun
authors.initials: S
authors.lastname: Kim
authors.forename: Hyun-Jung
authors.initials: HJ
authors.lastname: Kim
authors.forename: Man-Ho
authors.initials: MH
authors.lastname: Kim
authors.forename: Kyoung-Min
authors.initials: KM
authors.lastname: Lee
authors.forename: Yoon-Ho
authors.initials: YH
authors.lastname: Hong
authors.forename: Kyung Seok
authors.initials: KS
authors.lastname: Park
authors.forename: Jung-Joon
authors.initials: JJ
authors.lastname: Sung
authors.forename: Kwang-Woo
authors.initials: KW
authors.lastname: Lee
mesh_terms: D000328:Adult; D001483:Base Sequence; D003337:Corpus Callosum / Q000473:pathology*; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D006801:Humans; D007723:Korea; D008297:Male; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D020125:Mutation, Missense; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult
chemical_list: D011506:Proteins; C520412:SPG11 protein, human