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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A challenging diagnosis and a rare multiple sclerosis mimic.
J Stroke Cerebrovasc Dis
August 2023
Department of Neuroscience, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia. Electronic address:
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an extremely rare hereditary cerebral small vessel disease caused by homozygous or compound heterozygous mutations in the gene coding for high-temperature requirement A serine peptidase 1 (HtrA1). Given the rare nature of the disease, delays in diagnosis and misdiagnosis are not uncommon. In this article, we reported the first case of CARASIL from Saudi Arabia with a novel homozygous variant c.
View Article and Find Full Text PDFWhen Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman.
Neurologist
July 2023
Bahrain Oncology Center, King Hamad University Hospital, Busaiteen, Kingdom of Bahrain.
Introduction: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive etiology of cerebral small-vessel disease. The bulk of CARASIL cases reported in the literature was from Japan and China. Herein, we report the first genetically confirmed case of CARASIL in the Arabic population.
View Article and Find Full Text PDFCARASIL; The Backache, Baldness, Brain Attack Syndrome: The Indian Scenario.
Ann Indian Acad Neurol
June 2020
Department of Neurology, St. John's Medical College Hospital, Sarjapura Road, Bengaluru, Karnataka, India.
Novel mutation in in a family with diffuse white matter lesions and inflammatory features.
Neurol Genet
August 2019
Translational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Objective: To investigate the possible involvement of germline mutations in a neurologic condition involving diffuse white matter lesions.
Methods: The patients were 3 siblings born to healthy parents. We performed homozygosity mapping, whole-exome sequencing, site-directed mutagenesis, and immunoblotting.
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