title: Unusual case of cerebral small vessel disease with a heterozygous nonsense mutation in HTRA1.
authors.affiliation: Division of Neurosurgery, Kofu Neurosurgical Hospital, Kofu, Yamanashi, Japan; Department of Neurosurgery, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Chuo, Yamanashi, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Tateoka
authors.affiliation: Division of Neurosurgery, Kofu Neurosurgical Hospital, Kofu, Yamanashi, Japan; Department of Neurosurgery, Medical Center East, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Onda
authors.affiliation: Department of Neurosurgery, Medical Center East, Tokyo Women's Medical University, Tokyo, Japan; Tokyo Women's Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, Japan.
authors.forename: Kengo
authors.initials: K
authors.lastname: Hirota
authors.affiliation: Department of Neurosurgery, Medical Center East, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Kasuya
authors.affiliation: Division of Neurosurgery, Kofu Neurosurgical Hospital, Kofu, Yamanashi, Japan.
authors.forename: Toyoaki
authors.initials: T
authors.lastname: Shinohara
authors.affiliation: Department of Neurosurgery, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Chuo, Yamanashi, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kinouchi
authors.affiliation: Department of Neurosurgery, Medical Center East, Tokyo Women's Medical University, Tokyo, Japan; Tokyo Women's Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, Japan. Electronic address: akagawa.hiroyuki@twmu.ac.jp.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Akagawa
mesh_terms: D059345:Cerebral Small Vessel Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases
keywords: Cerebral small vessel disease; Genetics; Next-generation sequencing