title: Characteristic features and progression of abnormalities on MRI for CARASIL.
abstract: OBJECTIVE
  The objective of this study was to clarify the characteristic brain MRI findings for genetically diagnosed CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy).
  
  
  METHODS
  Seven patients with CARASIL carrying HTRA1 mutations (representing 6 Japanese families) were included in this study. Eighteen brain MRIs were reviewed and evaluated with a new rating scale based on scoring for abnormal hyperintense lesions and atrophy.
  
  
  RESULTS
  At the last follow-up MRI, all patients had hyperintense lesions on T2-weighted images of the frontal white matter, anterior temporal lobe, external capsules, and thalami. Patients with longer time from the onset of cognitive impairment had higher MRI severity score. The atrophy advanced, followed by white matter lesion progression. During the early stage, hyperintense lesions were observed in the frontal white matter, external capsule, and pons. During the late stage, the arc-shaped hyperintense lesion from the pons to the middle cerebellar peduncles, which we designated the "arc sign," became evident. The arc sign was a characteristic finding for CARASIL in the advanced stage.
  
  
  CONCLUSIONS
  These characteristic MRI findings for CARASIL are useful for selecting patients for genetic testing. The rating scale correlates well with disease duration and might be useful for assessing disease progression.
authors.affiliation: From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (Y. Sekine, M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata City; Department of Neurology (T.F.), Kameda Medical Center, Kamogawa City; Department of Neurology (Y.N.), Keio University School of Medicine, Tokyo; Department of Neurology (Y. Shimoe), Kashima Rosai Hospital, Kashima City; Department of Neurology (A.S.), Ohta Atami Hospital, Koriyama City; Department of Neurology (S.Y.), Iida Municipal Hospital, Iida City; Department of Neurology (M.H.), Kasugai Municipal Hospital, Kasugai City; and Department of Neurology (M.T.), Nagaoka-Nishi Hospital, Nagaoka City, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Nozaki
authors.affiliation: From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (Y. Sekine, M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata City; Department of Neurology (T.F.), Kameda Medical Center, Kamogawa City; Department of Neurology (Y.N.), Keio University School of Medicine, Tokyo; Department of Neurology (Y. Shimoe), Kashima Rosai Hospital, Kashima City; Department of Neurology (A.S.), Ohta Atami Hospital, Koriyama City; Department of Neurology (S.Y.), Iida Municipal Hospital, Iida City; Department of Neurology (M.H.), Kasugai Municipal Hospital, Kasugai City; and Department of Neurology (M.T.), Nagaoka-Nishi Hospital, Nagaoka City, Japan.
authors.forename: Yumi
authors.initials: Y
authors.lastname: Sekine
authors.affiliation: From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (Y. Sekine, M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata City; Department of Neurology (T.F.), Kameda Medical Center, Kamogawa City; Department of Neurology (Y.N.), Keio University School of Medicine, Tokyo; Department of Neurology (Y. Shimoe), Kashima Rosai Hospital, Kashima City; Department of Neurology (A.S.), Ohta Atami Hospital, Koriyama City; Department of Neurology (S.Y.), Iida Municipal Hospital, Iida City; Department of Neurology (M.H.), Kasugai Municipal Hospital, Kasugai City; and Department of Neurology (M.T.), Nagaoka-Nishi Hospital, Nagaoka City, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Fukutake
authors.affiliation: From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (Y. Sekine, M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata City; Department of Neurology (T.F.), Kameda Medical Center, Kamogawa City; Department of Neurology (Y.N.), Keio University School of Medicine, Tokyo; Department of Neurology (Y. Shimoe), Kashima Rosai Hospital, Kashima City; Department of Neurology (A.S.), Ohta Atami Hospital, Koriyama City; Department of Neurology (S.Y.), Iida Municipal Hospital, Iida City; Department of Neurology (M.H.), Kasugai Municipal Hospital, Kasugai City; and Department of Neurology (M.T.), Nagaoka-Nishi Hospital, Nagaoka City, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Nishimoto
authors.affiliation: From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (Y. Sekine, M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata City; Department of Neurology (T.F.), Kameda Medical Center, Kamogawa City; Department of Neurology (Y.N.), Keio University School of Medicine, Tokyo; Department of Neurology (Y. Shimoe), Kashima Rosai Hospital, Kashima City; Department of Neurology (A.S.), Ohta Atami Hospital, Koriyama City; Department of Neurology (S.Y.), Iida Municipal Hospital, Iida City; Department of Neurology (M.H.), Kasugai Municipal Hospital, Kasugai City; and Department of Neurology (M.T.), Nagaoka-Nishi Hospital, Nagaoka City, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Shimoe
authors.affiliation: From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (Y. Sekine, M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata City; Department of Neurology (T.F.), Kameda Medical Center, Kamogawa City; Department of Neurology (Y.N.), Keio University School of Medicine, Tokyo; Department of Neurology (Y. Shimoe), Kashima Rosai Hospital, Kashima City; Department of Neurology (A.S.), Ohta Atami Hospital, Koriyama City; Department of Neurology (S.Y.), Iida Municipal Hospital, Iida City; Department of Neurology (M.H.), Kasugai Municipal Hospital, Kasugai City; and Department of Neurology (M.T.), Nagaoka-Nishi Hospital, Nagaoka City, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Shirata
authors.affiliation: From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (Y. Sekine, M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata City; Department of Neurology (T.F.), Kameda Medical Center, Kamogawa City; Department of Neurology (Y.N.), Keio University School of Medicine, Tokyo; Department of Neurology (Y. Shimoe), Kashima Rosai Hospital, Kashima City; Department of Neurology (A.S.), Ohta Atami Hospital, Koriyama City; Department of Neurology (S.Y.), Iida Municipal Hospital, Iida City; Department of Neurology (M.H.), Kasugai Municipal Hospital, Kasugai City; and Department of Neurology (M.T.), Nagaoka-Nishi Hospital, Nagaoka City, Japan.
authors.forename: Sohei
authors.initials: S
authors.lastname: Yanagawa
authors.affiliation: From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (Y. Sekine, M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata City; Department of Neurology (T.F.), Kameda Medical Center, Kamogawa City; Department of Neurology (Y.N.), Keio University School of Medicine, Tokyo; Department of Neurology (Y. Shimoe), Kashima Rosai Hospital, Kashima City; Department of Neurology (A.S.), Ohta Atami Hospital, Koriyama City; Department of Neurology (S.Y.), Iida Municipal Hospital, Iida City; Department of Neurology (M.H.), Kasugai Municipal Hospital, Kasugai City; and Department of Neurology (M.T.), Nagaoka-Nishi Hospital, Nagaoka City, Japan.
authors.forename: Mikio
authors.initials: M
authors.lastname: Hirayama
authors.affiliation: From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (Y. Sekine, M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata City; Department of Neurology (T.F.), Kameda Medical Center, Kamogawa City; Department of Neurology (Y.N.), Keio University School of Medicine, Tokyo; Department of Neurology (Y. Shimoe), Kashima Rosai Hospital, Kashima City; Department of Neurology (A.S.), Ohta Atami Hospital, Koriyama City; Department of Neurology (S.Y.), Iida Municipal Hospital, Iida City; Department of Neurology (M.H.), Kasugai Municipal Hospital, Kasugai City; and Department of Neurology (M.T.), Nagaoka-Nishi Hospital, Nagaoka City, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Tamura
authors.affiliation: From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (Y. Sekine, M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata City; Department of Neurology (T.F.), Kameda Medical Center, Kamogawa City; Department of Neurology (Y.N.), Keio University School of Medicine, Tokyo; Department of Neurology (Y. Shimoe), Kashima Rosai Hospital, Kashima City; Department of Neurology (A.S.), Ohta Atami Hospital, Koriyama City; Department of Neurology (S.Y.), Iida Municipal Hospital, Iida City; Department of Neurology (M.H.), Kasugai Municipal Hospital, Kasugai City; and Department of Neurology (M.T.), Nagaoka-Nishi Hospital, Nagaoka City, Japan.
authors.forename: Masatoyo
authors.initials: M
authors.lastname: Nishizawa
authors.affiliation: From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (Y. Sekine, M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata City; Department of Neurology (T.F.), Kameda Medical Center, Kamogawa City; Department of Neurology (Y.N.), Keio University School of Medicine, Tokyo; Department of Neurology (Y. Shimoe), Kashima Rosai Hospital, Kashima City; Department of Neurology (A.S.), Ohta Atami Hospital, Koriyama City; Department of Neurology (S.Y.), Iida Municipal Hospital, Iida City; Department of Neurology (M.H.), Kasugai Municipal Hospital, Kasugai City; and Department of Neurology (M.T.), Nagaoka-Nishi Hospital, Nagaoka City, Japan. onodera@bri.niigata-u.ac.jp.
authors.forename: Osamu
authors.initials: O
authors.lastname: Onodera
mesh_terms: D000328:Adult; D000505:Alopecia / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D002544:Cerebral Infarction / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D008279:Magnetic Resonance Imaging / Q000639:trends*; D008297:Male; D008875:Middle Aged; D012697:Serine Endopeptidases / Q000235:genetics; D013122:Spinal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*
chemical_list: D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases