Neuropathologic description of

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Feb 2020
Historique:
received: 13 02 2019
accepted: 22 11 2019
entrez: 12 2 2020
pubmed: 12 2 2020
medline: 12 2 2020
Statut: epublish

Résumé

To present the postmortem neuropathologic report of a patient with a A 54-year-old man without significant medical history or family history presented with arm weakness, slowly progressed over 19 years to meet the El Escorial criteria for clinically probable ALS with bulbar and respiratory involvement, and was found to have a Postmortem examination of the The neuropathology of CHCHD10 mutated ALS includes predominantly lower motor neuron degeneration, absent TDP43 immunopathology, and aggregates of predominantly extracellular CHCHD10, which do not contain TDP43.

Identifiants

DOI: 10.1212/NXG.0000000000000394 PMID: 32042922 PMC: PMC6975173
pubmed: 32042922
doi: 10.1212/NXG.0000000000000394
pii: NG2019010306
pmc: PMC6975173
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e394

Informations de copyright

Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Références

EMBO Mol Med. 2015 Dec 14;8(1):58-72
pubmed: 26666268
Neurobiol Aging. 2014 Dec;35(12):2884.e1-2884.e4
pubmed: 25155093
Neuropathol Appl Neurobiol. 2011 Jun;37(4):336-52
pubmed: 21299590
Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Dec;1(5):293-9
pubmed: 11464847
Ann Neurol. 2015 Jan;77(1):163-72
pubmed: 25428574
Neurobiol Aging. 2015 Jan;36(1):545.e9-14
pubmed: 25174650
Brain. 2014 Dec;137(Pt 12):e311
pubmed: 25261972
Nature. 2006 Oct 19;443(7113):787-95
pubmed: 17051205
Hum Mol Genet. 2018 Jan 1;27(1):178-189
pubmed: 29121267
Parkinsonism Relat Disord. 2018 Feb;47:96-97
pubmed: 29249678
Brain. 2015 Sep;138(Pt 9):e380
pubmed: 25833818
Nat Med. 2016 Aug;22(8):869-78
pubmed: 27348499
Hum Mol Genet. 2018 Nov 15;27(22):3881-3900
pubmed: 30084972
Neurobiol Dis. 2018 Nov;119:159-171
pubmed: 30092269
J Biol Chem. 2018 Apr 27;293(17):6517-6529
pubmed: 29540477
Nat Commun. 2017 Jun 06;8:15558
pubmed: 28585542
Brain. 2014 Dec;137(Pt 12):e309
pubmed: 25113787
Brain. 2014 Dec;137(Pt 12):e313
pubmed: 25348631
Hum Mol Genet. 2013 Dec 1;22(23):4706-19
pubmed: 23827948
Brain. 2014 Aug;137(Pt 8):2329-45
pubmed: 24934289
Transl Neurodegener. 2015 Jul 29;4:14
pubmed: 26225210
Acta Neuropathol. 2019 Jul;138(1):103-121
pubmed: 30877432
Neurobiol Aging. 2018 Jun;66:181.e1-181.e2
pubmed: 29519717
Ann Neurol. 2018 Jul;84(1):110-116
pubmed: 30014597
J Neurosci. 2010 Aug 11;30(32):10851-9
pubmed: 20702714
Neurol Genet. 2015 Mar 26;1(1):e1
pubmed: 27066538
Neurogenetics. 2015 Jan;16(1):1-9
pubmed: 25193783

Auteurs

Julia L Keith (JL)

Laboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.

Emily Swinkin (E)

Laboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.

Andrew Gao (A)

Laboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.

Samira Alminawi (S)

Laboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.

Ming Zhang (M)

Laboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.

Philip McGoldrick (P)

Laboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.

Paul McKeever (P)

Laboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.

Janice Robertson (J)

Laboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.

Ekaterina Rogaeva (E)

Laboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.

Lorne Zinman (L)

Laboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.

Classifications MeSH