@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 = "Funding Information: The authors thank the participants and their families for their help with this work. We are grateful to Professor Shoji Tsuji, University of Tokyo, for his contribution of the positive control case from Japan for our study. The authors thank Professor Janice Holton from the Queen Square Brain Bank for reporting and identifying cases used for this paper. The authors thank the Neurological Tissue Bank of the Biobank-Hospital Clinic ? IDIBAPS, Barcelona, Spain and Teresa Ximelis for sample and data procurement. We are grateful to Dr Rebecca Ormsby and the South Australian Brank Bank for providing samples. ZC was funded by a Leonard Wolfson Clinical Research Fellowship (Grant number 157793). ZJ is supported by the Department of Health?s NIHR UCLH/UCL Biomedical Research Centre?s funding scheme. AT is a Medical Research Council Clinician Scientist (MR/S006753/1). TL is supported by an Alzheimer?s Research UK Senior Fellowship. We would also like to thank the MSA Trust, Medical Research Council (MR/S01165X/1), Wellcome Trust (WT093205 MA and WT104033AIA), Ataxia UK and Rosetrees Trust for funding. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. Funding Information: The authors thank the participants and their families for their help with this work. We are grateful to Professor Shoji Tsuji, University of Tokyo, for his contribution of the positive control case from Japan for our study. The authors thank Professor Janice Holton from the Queen Square Brain Bank for reporting and identifying cases used for this paper. The authors thank the Neurological Tissue Bank of the Biobank‐Hospital Clinic – IDIBAPS, Barcelona, Spain and Teresa Ximelis for sample and data procurement. We are grateful to Dr Rebecca Ormsby and the South Australian Brank Bank for providing samples. ZC was funded by a Leonard Wolfson Clinical Research Fellowship (Grant number 157793). ZJ is supported by the Department of Health{\textquoteright}s NIHR UCLH/UCL Biomedical Research Centre{\textquoteright}s funding scheme. AT is a Medical Research Council Clinician Scientist (MR/S006753/1). TL is supported by an Alzheimer{\textquoteright}s Research UK Senior Fellowship. We would also like to thank the MSA Trust, Medical Research Council (MR/S01165X/1), Wellcome Trust (WT093205 MA and WT104033AIA), Ataxia UK and Rosetrees Trust for funding. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. ",
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",
}