Neuronal intranuclear inclusion disease is genetically heterogeneous.

Adolescent Adult Age of Onset Europe Female Humans Intranuclear Inclusion Bodies / genetics Male Middle Aged Neurodegenerative Diseases / genetics Polymorphism, Single Nucleotide Receptor, Notch2 / genetics Trinucleotide Repeat Expansion White People Whole Genome Sequencing

Journal

Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278

Informations de publication

Date de publication:
09 2020
Historique:
received: 25 06 2020
accepted: 15 07 2020
pubmed: 11 8 2020
medline: 21 10 2021
entrez: 11 8 2020
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1002/acn3.51151 PMID: 32777174 PMC: PMC7480908
pubmed: 32777174
doi: 10.1002/acn3.51151
pmc: PMC7480908
doi:

Substances chimiques

NOTCH2 protein, human 0
Receptor, Notch2 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1716-1725

Subventions

Organisme : Medical Research Council
ID : MR/L501542/1
Pays : United Kingdom
Organisme : Parkinson's UK
ID : G-0907
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S01165X/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : WT104033AIA
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0701075
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0901254
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N008324/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N026004/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S006753/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : WT093205MA
Pays : United Kingdom

Commentaires et corrections

Type : CommentIn
Type : CommentIn
Type : CommentIn
Type : CommentIn

Informations de copyright

© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

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Auteurs

Zhongbo Chen (Z)

Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.
ORCID: 0000-0001-6668-7202

Wai Yan Yau (W)

Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.
ORCID: 0000-0001-6284-9163

Zane Jaunmuktane (Z)

Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, UK.

Arianna Tucci (A)

Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Prasanth Sivakumar (P)

Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.

Sarah A Gagliano Taliun (SA)

Center for Statistical Genetics and Department of Biostatistics, University of Michigan, Ann Arbor, Michigan.

Chris Turner (C)

Queen Square Institute of Neurology, UCL and the National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

Stephanie Efthymiou (S)

Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.

Kristina Ibáñez (K)

Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Roisin Sullivan (R)

Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.
ORCID: 0000-0002-4636-8033

Farah Bibi (F)

University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi, Pakistan.

Alkyoni Athanasiou-Fragkouli (A)

Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.

Thomas Bourinaris (T)

Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.

David Zhang (D)

Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.

Tamas Revesz (T)

Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, UK.

Tammaryn Lashley (T)

Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, UK.

Michael DeTure (M)

Department of Neuroscience, Mayo Clinic, Jacksonville, Florida.

Dennis W Dickson (DW)

Department of Neuroscience, Mayo Clinic, Jacksonville, Florida.
ORCID: 0000-0001-7189-7917

Keith A Josephs (KA)

Mayo Clinic, Neurodegenerative Research Group, Rochester, Minnesota.
ORCID: 0000-0003-2930-8634

Ellen Gelpi (E)

Neurological Tissue Bank of the Hospital Clinic-Institut d'Investigacions Biomediques August Pi I Sunyer (IDIBAPS) Biobank, Barcelona, Spain.
Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Austria.

Gabor G Kovacs (GG)

Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Austria.
University of Toronto, Tanz Centre for Research in Neurodegenerative Disease, Toronto, Canada.
ORCID: 0000-0003-3841-5511

Glenda Halliday (G)

Neuroscience Research Australia, Sydney, Australia.
School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia.
Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, Australia.

Dominic B Rowe (DB)

Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.

Ian Blair (I)

Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.

Pentti J Tienari (PJ)

Department of Neurology, Helsinki University Hospital, Helsinki, Finland.
Translational Immunology Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

Anu Suomalainen (A)

Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, 00290, Finland.
Neuroscience Center, HiLife, University of Helsinki, Helsinki, 00290, Finland.
HUSlab, Helsinki University Hospital, Helsinki, 00290, Finland.

Nick C Fox (NC)

Dementia Research Centre, UCL, London, Queen Square, UK.

Nicholas W Wood (NW)

Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, London, UK.

Andrew J Lees (AJ)

Queen Square Brain Bank, Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, UCL, UK.
Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, Wakefield Street, London.

Matti J Haltia (MJ)

Department of Pathology, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Genomics England, London, UK.
William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.

John Hardy (J)

Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.
Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, Wakefield Street, London.
UK Dementia Research Institute at UCL, Queen Square Institute of Neurology, UCL, London, UK.
NIHR University College London Hospitals Biomedical Research Centre, London, UK.
Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China.

Mina Ryten (M)

Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL), London, UK.

Jana Vandrovcova (J)

Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.

Henry Houlden (H)

Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Facteurs épidémiologiques › Facteurs âges › Âge de début › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Régions géographiques › Europe › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Cellules › Structures cellulaires › Corps d'inclusion › Corps d'inclusion intranucléaire › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Récepteurs Notch › Récepteur Notch2 › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Expansion de trinucléotide répété › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Personnes › Blancs › Neuronal intranuclear inclusion disease is...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Neuronal intranuclear inclusion disease is...