@article{31cf9c77f80d45cebfd48471af56eb84,
title = "Neuronal intranuclear inclusion disease is genetically heterogeneous",
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.",
author = "{Genomics England Research Consortium} and {Genomics England Research Consortium} and Zhongbo Chen and {Yan Yau}, Wai and Zane Jaunmuktane and Arianna Tucci and Prasanth Sivakumar and {Gagliano Taliun}, {Sarah A.} and Chris Turner and Stephanie Efthymiou and Kristina Ib{\'a}{\~n}ez and Roisin Sullivan and Farah Bibi and Alkyoni Athanasiou-Fragkouli and Thomas Bourinaris and David Zhang and Tamas Revesz and Tammaryn Lashley and Michael DeTure and Dickson, {Dennis W.} and Josephs, {Keith A.} and Ellen Gelpi and Kovacs, {Gabor G.} and Glenda Halliday and Rowe, {Dominic B.} and Ian Blair and Tienari, {Pentti J.} and Anu Suomalainen and Fox, {Nick C.} and Wood, {Nicholas W.} and Lees, {Andrew J.} and Haltia, {Matti J.} and John Hardy and Mina Ryten and Jana Vandrovcova and Henry Houlden and Ambrose, {J. C.} and P. Arumugam and Baple, {E. L.} and M. Bleda and F. Boardman-Pretty and Boissiere, {J. M.} and Boustred, {C. R.} and H. Brittain and Caulfield, {M. J.} and Chan, {G. C.} and Craig, {C. E.H.} and Daugherty, {L. C.} and {de Burca}, A. and A. Devereau and G. Elgar and Foulger, {R. E.}",
note = "Publisher Copyright: {\textcopyright} 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.",
year = "2020",
month = sep,
day = "1",
doi = "10.1002/acn3.51151",
language = "English (US)",
volume = "7",
pages = "1716--1725",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "John Wiley and Sons Inc.",
number = "9",
}