Hiroaki Nozaki1, Yumi Sekine1, Toshio Fukutake1, Yoshinori Nishimoto1, Yutaka Shimoe1, Akiko Shirata1, Sohei Yanagawa1, Mikio Hirayama1, Masato Tamura1, Masatoyo Nishizawa1, Osamu Onodera2. 1. 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. 2. 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.
Abstract
OBJECTIVES: 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.
OBJECTIVES: 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: Margaret Flanagan; Eric B Larson; Caitlin S Latimer; Brenna Cholerton; Paul K Crane; Kathleen S Montine; Lon R White; C Dirk Keene; Thomas J Montine Journal: Biochim Biophys Acta Date: 2015-08-28
Authors: A Bersano; M Kraemer; A Burlina; M Mancuso; J Finsterer; S Sacco; C Salvarani; L Caputi; H Chabriat; S Lesnik Oberstein; A Federico; E Tournier Lasserve; D Hunt; M Dichgans; M Arnold; S Debette; H S Markus Journal: J Neurol Date: 2020-04-21 Impact factor: 4.849
Authors: M Arfan Ikram; Anna Bersano; Raquel Manso-Calderón; Jian-Ping Jia; Helena Schmidt; Lefkos Middleton; Benedetta Nacmias; Saima Siddiqi; Hieab H H Adams Journal: BMC Med Date: 2017-03-06 Impact factor: 8.775