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

doi:10.1002/acn3.51151

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 GelpiGabor 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^*

^*Corresponding author for this work

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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.

Original language	English
Pages (from-to)	1716-1725
Number of pages	10
Journal	Annals of Clinical and Translational Neurology
Volume	7
Issue number	9
Early online date	10 Aug 2020
DOIs	https://doi.org/10.1002/acn3.51151
Publication status	Published - Sept 2020

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Copyright the Author(s) 2020. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

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Chen, Z., Yan Yau, W., Jaunmuktane, Z., Tucci, A., Sivakumar, P., Gagliano Taliun, S. A., Turner, C., Efthymiou, S., Ibáñez, K., Sullivan, R., Bibi, F., Athanasiou-Fragkouli, A., Bourinaris, T., Zhang, D., Revesz, T., Lashley, T., DeTure, M., Dickson, D. W., Josephs, K. A., ... Houlden, H. (2020). Neuronal intranuclear inclusion disease is genetically heterogeneous. Annals of Clinical and Translational Neurology, 7(9), 1716-1725. https://doi.org/10.1002/acn3.51151

@article{ecbe62f77fc549dc87293f1e0eb1fd46,

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 = "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 {Genomics England Research Consortium} and John Hardy and Mina Ryten and Jana Vandrovcova and Henry Houlden",

note = "Copyright the Author(s) 2020. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.",

year = "2020",

month = sep,

doi = "10.1002/acn3.51151",

language = "English",

volume = "7",

pages = "1716--1725",

journal = "Annals of Clinical and Translational Neurology",

issn = "2328-9503",

publisher = "John Wiley & Sons",

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Chen, Z, Yan Yau, W, Jaunmuktane, Z, Tucci, A, Sivakumar, P, Gagliano Taliun, SA, Turner, C, Efthymiou, S, Ibáñez, K, Sullivan, R, Bibi, F, Athanasiou-Fragkouli, A, Bourinaris, T, Zhang, D, Revesz, T, Lashley, T, DeTure, M, Dickson, DW, Josephs, KA, Gelpi, E, Kovacs, GG, Halliday, G, Rowe, DB , Blair, I, Tienari, PJ, Suomalainen, A, Fox, NC, Wood, NW, Lees, AJ, Haltia, MJ, Genomics England Research Consortium, Hardy, J, Ryten, M, Vandrovcova, J & Houlden, H 2020, 'Neuronal intranuclear inclusion disease is genetically heterogeneous', Annals of Clinical and Translational Neurology, vol. 7, no. 9, pp. 1716-1725. https://doi.org/10.1002/acn3.51151

TY - JOUR

T1 - Neuronal intranuclear inclusion disease is genetically heterogeneous

AU - Chen, Zhongbo

AU - Yan Yau, Wai

AU - Jaunmuktane, Zane

AU - Tucci, Arianna

AU - Sivakumar, Prasanth

AU - Gagliano Taliun, Sarah A.

AU - Turner, Chris

AU - Efthymiou, Stephanie

AU - Ibáñez, Kristina

AU - Sullivan, Roisin

AU - Bibi, Farah

AU - Athanasiou-Fragkouli, Alkyoni

AU - Bourinaris, Thomas

AU - Zhang, David

AU - Revesz, Tamas

AU - Lashley, Tammaryn

AU - DeTure, Michael

AU - Dickson, Dennis W.

AU - Josephs, Keith A.

AU - Gelpi, Ellen

AU - Kovacs, Gabor G.

AU - Halliday, Glenda

AU - Rowe, Dominic B.

AU - Blair, Ian

AU - Tienari, Pentti J.

AU - Suomalainen, Anu

AU - Fox, Nick C.

AU - Wood, Nicholas W.

AU - Lees, Andrew J.

AU - Haltia, Matti J.

AU - Genomics England Research Consortium

AU - Hardy, John

AU - Ryten, Mina

AU - Vandrovcova, Jana

AU - Houlden, Henry

N1 - Copyright the Author(s) 2020. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

PY - 2020/9

Y1 - 2020/9

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85089197643&partnerID=8YFLogxK

U2 - 10.1002/acn3.51151

DO - 10.1002/acn3.51151

M3 - Article

C2 - 32777174

AN - SCOPUS:85089197643

SN - 2328-9503

VL - 7

SP - 1716

EP - 1725

JO - Annals of Clinical and Translational Neurology

JF - Annals of Clinical and Translational Neurology

IS - 9

ER -

Neuronal intranuclear inclusion disease is genetically heterogeneous

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