Annals of Clinical and Translational Neurology (Sep 2020)
Neuronal intranuclear inclusion disease is genetically heterogeneous
- Zhongbo Chen,
- Wai Yan Yau,
- Zane Jaunmuktane,
- Arianna Tucci,
- Prasanth Sivakumar,
- Sarah A. Gagliano Taliun,
- Chris Turner,
- Stephanie Efthymiou,
- Kristina Ibáñez,
- Roisin Sullivan,
- Farah Bibi,
- Alkyoni Athanasiou‐Fragkouli,
- Thomas Bourinaris,
- David Zhang,
- Tamas Revesz,
- Tammaryn Lashley,
- Michael DeTure,
- Dennis W. Dickson,
- Keith A. Josephs,
- Ellen Gelpi,
- Gabor G. Kovacs,
- Glenda Halliday,
- Dominic B. Rowe,
- Ian Blair,
- Pentti J. Tienari,
- Anu Suomalainen,
- Nick C. Fox,
- Nicholas W. Wood,
- Andrew J. Lees,
- Matti J. Haltia,
- Genomics England Research Consortium,
- John Hardy,
- Mina Ryten,
- Jana Vandrovcova,
- Henry Houlden
Affiliations
- Zhongbo Chen
- Department of Neurodegenerative Disease Queen Square Institute of Neurology University College London (UCL) London UK
- Wai Yan Yau
- Department of Neuromuscular Disease Queen Square Institute of NeurologyUCL London UK
- Zane Jaunmuktane
- Queen Square Brain Bank Department of Clinical and Movement Neurosciences Queen Square Institute of NeurologyUCL UK
- Arianna Tucci
- Clinical Pharmacology William Harvey Research Institute School of Medicine and Dentistry Queen Mary University of London London UK
- Prasanth Sivakumar
- Department of Neuromuscular Disease Queen Square Institute of NeurologyUCL London UK
- Sarah A. Gagliano Taliun
- Center for Statistical Genetics and Department of Biostatistics University of Michigan Ann Arbor Michigan
- Chris Turner
- Queen Square Institute of Neurology UCL and the National Hospital for Neurology and Neurosurgery Queen Square London UK
- Stephanie Efthymiou
- Department of Neuromuscular Disease Queen Square Institute of NeurologyUCL London UK
- Kristina Ibáñez
- Clinical Pharmacology William Harvey Research Institute School of Medicine and Dentistry Queen Mary University of London London UK
- Roisin Sullivan
- Department of Neuromuscular Disease Queen Square Institute of NeurologyUCL London UK
- Farah Bibi
- University Institute of Biochemistry & BiotechnologyPMAS – Arid Agriculture University Rawalpindi Pakistan
- Alkyoni Athanasiou‐Fragkouli
- Department of Neuromuscular Disease Queen Square Institute of NeurologyUCL London UK
- Thomas Bourinaris
- Department of Neuromuscular Disease Queen Square Institute of NeurologyUCL London UK
- David Zhang
- Department of Neurodegenerative Disease Queen Square Institute of Neurology University College London (UCL) London UK
- Tamas Revesz
- Queen Square Brain Bank Department of Clinical and Movement Neurosciences Queen Square Institute of NeurologyUCL UK
- Tammaryn Lashley
- Department of Neurodegenerative Disease Queen Square Institute of Neurology University College London (UCL) London UK
- Michael DeTure
- Department of Neuroscience Mayo Clinic Jacksonville Florida
- Dennis W. Dickson
- Department of Neuroscience Mayo Clinic Jacksonville Florida
- Keith A. Josephs
- Mayo ClinicNeurodegenerative Research Group Rochester Minnesota
- Ellen Gelpi
- Neurological Tissue Bank of the Hospital Clinic‐Institut d’Investigacions Biomediques August Pi I Sunyer (IDIBAPS) Biobank Barcelona Spain
- Gabor G. Kovacs
- Division of Neuropathology and Neurochemistry Department of Neurology Medical University of Vienna Austria
- Glenda Halliday
- Neuroscience Research Australia Sydney Australia
- Dominic B. Rowe
- Centre for Motor Neuron Disease Research Department of Biomedical Sciences Faculty of Medicine and Health Sciences Macquarie University Sydney NSW Australia
- Ian Blair
- Centre for Motor Neuron Disease Research Department of Biomedical Sciences Faculty of Medicine and Health Sciences Macquarie University Sydney NSW Australia
- Pentti J. Tienari
- Department of Neurology Helsinki University Hospital Helsinki Finland
- Anu Suomalainen
- Research Programs Unit, Stem Cells and Metabolism University of Helsinki Helsinki00290Finland
- Nick C. Fox
- Dementia Research Centre UCL London Queen Square UK
- Nicholas W. Wood
- Department of Clinical and Movement Neurosciences Queen Square Institute of NeurologyUCL London UK
- Andrew J. Lees
- Queen Square Brain Bank Department of Clinical and Movement Neurosciences Queen Square Institute of NeurologyUCL UK
- Matti J. Haltia
- Department of Pathology Faculty of Medicine University of Helsinki Helsinki Finland
- Genomics England Research Consortium
- Genomics England London UK
- John Hardy
- Department of Neurodegenerative Disease Queen Square Institute of Neurology University College London (UCL) London UK
- Mina Ryten
- Department of Neurodegenerative Disease Queen Square Institute of Neurology University College London (UCL) London UK
- Jana Vandrovcova
- Department of Neuromuscular Disease Queen Square Institute of NeurologyUCL London UK
- Henry Houlden
- Department of Neuromuscular Disease Queen Square Institute of NeurologyUCL London UK
- DOI
- https://doi.org/10.1002/acn3.51151
- Journal volume & issue
-
Vol. 7,
no. 9
pp. 1716 – 1725
Abstract
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.
