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Neuronal intranuclear inclusion disease is genetically heterogeneous.
Chen, Zhongbo; Yan Yau, Wai; Jaunmuktane, Zane; Tucci, Arianna; Sivakumar, Prasanth; Gagliano Taliun, Sarah A; Turner, Chris; Efthymiou, Stephanie; Ibáñez, Kristina; Sullivan, Roisin; Bibi, Farah; Athanasiou-Fragkouli, Alkyoni; Bourinaris, Thomas; Zhang, David; Revesz, Tamas; Lashley, Tammaryn; DeTure, Michael; Dickson, Dennis W; Josephs, Keith A; Gelpi, Ellen; Kovacs, Gabor G; Halliday, Glenda; Rowe, Dominic B; Blair, Ian; Tienari, Pentti J; Suomalainen, Anu; Fox, Nick C; Wood, Nicholas W; Lees, Andrew J; Haltia, Matti J; Hardy, John; Ryten, Mina; Vandrovcova, Jana; Houlden, Henry.
Afiliación
  • Chen Z; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
  • Yan Yau W; Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.
  • Jaunmuktane Z; Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.
  • Tucci A; Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, UK.
  • Sivakumar P; Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Gagliano Taliun SA; Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.
  • Turner C; Center for Statistical Genetics and Department of Biostatistics, University of Michigan, Ann Arbor, Michigan.
  • Efthymiou S; Queen Square Institute of Neurology, UCL and the National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Ibáñez K; Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.
  • Sullivan R; Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Bibi F; Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.
  • Athanasiou-Fragkouli A; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi, Pakistan.
  • Bourinaris T; Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.
  • Zhang D; Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.
  • Revesz T; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
  • Lashley T; Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, UK.
  • DeTure M; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
  • Dickson DW; Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, UK.
  • Josephs KA; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida.
  • Gelpi E; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida.
  • Kovacs GG; Mayo Clinic, Neurodegenerative Research Group, Rochester, Minnesota.
  • Halliday G; Neurological Tissue Bank of the Hospital Clinic-Institut d'Investigacions Biomediques August Pi I Sunyer (IDIBAPS) Biobank, Barcelona, Spain.
  • Rowe DB; Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Austria.
  • Blair I; Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Austria.
  • Tienari PJ; University of Toronto, Tanz Centre for Research in Neurodegenerative Disease, Toronto, Canada.
  • Suomalainen A; Neuroscience Research Australia, Sydney, Australia.
  • Fox NC; School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia.
  • Wood NW; Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, Australia.
  • Lees AJ; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.
  • Haltia MJ; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.
  • Hardy J; Translational Immunology Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Ryten M; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, 00290, Finland.
  • Vandrovcova J; Neuroscience Center, HiLife, University of Helsinki, Helsinki, 00290, Finland.
  • Houlden H; HUSlab, Helsinki University Hospital, Helsinki, 00290, Finland.
Ann Clin Transl Neurol ; 7(9): 1716-1725, 2020 09.
Article en En | MEDLINE | ID: mdl-32777174
ABSTRACT
Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be associated with NIID in patients of Japanese descent. We screened pathologically confirmed European NIID, cases of neurodegenerative disease with intranuclear inclusions and applied in silico-based screening using whole-genome sequencing data from 20 536 participants in the 100 000 Genomes Project. We identified a single European case harbouring the pathogenic repeat expansion with a distinct haplotype structure. Thus, we propose new diagnostic criteria as European NIID represents a distinct disease entity from East Asian cases.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Receptor Notch2 Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Ann Clin Transl Neurol Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Receptor Notch2 Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Ann Clin Transl Neurol Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido