title: Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8.
abstract: Exome sequencing revealed a novel missense mutation (c.2152G>A, p.E713K) in the KIAA0196 gene in a Japanese patient with SPG8. To date, only 10 mutations in the KIAA0196 gene have been reported in the world. We describe the clinical and genetic findings in our patient with SPG8, which is a rare dominant hereditary spastic paraplegia. Notably, our patient showed mild upper limb ataxia, which is a relatively atypical symptom of SPG8. Thus, our patient showed a wide clinical spectrum of SPG8.
authors.affiliation: Department of Neurology, Graduate School of Medical Science, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: Yuta
authors.initials: Y
authors.lastname: Ichinose
authors.affiliation: Department of Neurology, Graduate School of Medical Science, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: Kishin
authors.initials: K
authors.lastname: Koh
authors.affiliation: Department of Neurology, Graduate School of Medical Science, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: Megumi
authors.initials: M
authors.lastname: Fukumoto
authors.affiliation: Department of Neurology, Graduate School of Medical Science, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: Nobuo
authors.initials: N
authors.lastname: Yamashiro
authors.affiliation: Department of Neurology, Graduate School of Medical Science, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: Fumikazu
authors.initials: F
authors.lastname: Kobayashi
authors.affiliation: Department of Neurology, Graduate School of Medical Science, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: Michiaki
authors.initials: M
authors.lastname: Miwa
authors.affiliation: Department of Neurology, Graduate School of Medical Science, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: Takamura
authors.initials: T
authors.lastname: Nagasaka
authors.affiliation: Department of Neurology, Graduate School of Medical Science, University of Yamanashi, Yamanashi 409-3898, Japan.
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Shindo
authors.affiliation: Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ishiura
authors.affiliation: Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
authors.affiliation: Department of Neurology, Graduate School of Medical Science, University of Yamanashi, Yamanashi 409-3898, Japan. Electronic address: ytakiyama@yamanashi.ac.jp.
authors.forename: Dr Yoshihisa
authors.initials: DY
authors.lastname: Takiyama
mesh_terms: D044466:Asian People / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010264:Paraplegia / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D011506:Proteins; C517003:WASHC5 protein, human
keywords: Hereditary spastic paraplegia; SPG8