title: Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report.
abstract: BACKGROUND
  Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder caused by mutations in the ROBO3 gene, resulting in a critical absence of crossing fibers in the brainstem.
  
  
  METHODS
  We present a patient with ipsilateral hemiparesis caused by putaminal hemorrhage who had a history of horizontal gaze paralysis and scoliosis since childhood. Diffusion tensor imaging (DTI) tractography confirmed the presence of uncrossed corticospinal tracts. Sequence analysis of the entire ROBO3 coding regions revealed a novel nonsense mutation.
  
  
  CONCLUSIONS
  We report the first known HGPPS case with intracranial hemorrhage and ROBO3 mutation showing an absence of major crossing pathways by DTI.
authors.affiliation: Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, 2-1-14 Hoenzaka, Chuo-ku, Osaka City, 540-0006, Japan. eugenia@hotmail.co.jp.
authors.forename: Shuhei
authors.initials: S
authors.lastname: Yamada
authors.affiliation: Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, 2-1-14 Hoenzaka, Chuo-ku, Osaka City, 540-0006, Japan. yokita4246@gmail.com.
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Okita
authors.affiliation: Division of Stem Cell Research, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, 2-1-14 Hoenzaka, Chuo-ku, Osaka City, 540-0006, Japan. tshofuda@onh.go.jp.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Shofuda
authors.affiliation: Division of Stem Cell Research, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, 2-1-14 Hoenzaka, Chuo-ku, Osaka City, 540-0006, Japan. e.hirai@onh.go.jp.
authors.forename: Ema
authors.initials: E
authors.lastname: Yoshioka
authors.affiliation: Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, 2-1-14 Hoenzaka, Chuo-ku, Osaka City, 540-0006, Japan. nonakamasa65@gmail.com.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Nonaka
authors.affiliation: Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, 2-1-14 Hoenzaka, Chuo-ku, Osaka City, 540-0006, Japan. m_kousuke7776@yahoo.co.jp.
authors.forename: Kosuke
authors.initials: K
authors.lastname: Mori
authors.affiliation: Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, 2-1-14 Hoenzaka, Chuo-ku, Osaka City, 540-0006, Japan. shin_n@onh.go.jp.
authors.forename: Shin
authors.initials: S
authors.lastname: Nakajima
authors.affiliation: Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, 2-1-14 Hoenzaka, Chuo-ku, Osaka City, 540-0006, Japan. kanemura@onh.go.jp.|Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, 2-1-14 Hoenzaka, Chuo-ku, Osaka City, 540-0006, Japan. kanemura@onh.go.jp.
authors.forename: Yonehiro
authors.initials: Y
authors.lastname: Kanemura
mesh_terms: D001933:Brain Stem / Q000473:pathology*; D018389:Codon, Nonsense; D056324:Diffusion Tensor Imaging; D005260:Female; D006801:Humans; D008875:Middle Aged; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010291:Paresis / Q000209:etiology*; D020146:Putaminal Hemorrhage / Q000150:complications*; D011712:Pyramidal Tracts / Q000473:pathology*; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic / Q000235:genetics*; D012600:Scoliosis / Q000150:complications* / Q000235:genetics / Q000473:pathology; D000097905:Roundabout Proteins; D000093922:Congenital Cranial Dysinnervation Disorders
chemical_list: D018389:Codon, Nonsense; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; C499630:ROBO3 protein, human; D000097905:Roundabout Proteins