dc.contributor.author |
Dewan, Ramita |
|
dc.contributor.author |
Chia, Ruth |
|
dc.contributor.author |
Ding, Jinhui |
|
dc.contributor.author |
Hickman, Richard A |
|
dc.contributor.author |
Stein, Thor D |
|
dc.contributor.author |
Abramzon, Yevgeniya |
|
dc.contributor.author |
Ahmed, Sarah |
|
dc.contributor.author |
Sabir, Marya S |
|
dc.contributor.author |
Portley, Makayla K |
|
dc.contributor.author |
Tucci, Arianna |
|
dc.contributor.author |
Ibáñez, Kristina |
|
dc.contributor.author |
Shankaracharya, FNU |
|
dc.contributor.author |
Keagle, Pamela |
|
dc.contributor.author |
Rossi, Giacomina |
|
dc.contributor.author |
Caroppo, Paola |
|
dc.contributor.author |
Tagliavini, Fabrizio |
|
dc.contributor.author |
Waldo, Maria L |
|
dc.contributor.author |
Johansson, Per M |
|
dc.contributor.author |
Nilsson, Christer F |
|
dc.contributor.author |
American Genome Center (TAGC) |
|
dc.contributor.author |
FALS Sequencing Consortium |
|
dc.contributor.author |
Genomics England Research Consortium |
|
dc.contributor.author |
International ALS/FTD Genomics Consortium (iAFGC) |
|
dc.contributor.author |
International FTD Genetics Consortium (IFGC) |
|
dc.contributor.author |
International LBD Genomics Consortium (iLBDGC) |
|
dc.contributor.author |
NYGC ALS Consortium |
|
dc.contributor.author |
PROSPECT Consortium |
|
dc.contributor.author |
Rowe, James B |
|
dc.contributor.author |
Benussi, Luisa |
|
dc.contributor.author |
Binetti, Giuliano |
|
dc.contributor.author |
Ghidoni, Roberta |
|
dc.contributor.author |
Jabbari, Edwin |
|
dc.contributor.author |
Viollet, Coralie |
|
dc.contributor.author |
Glass, Jonathan D |
|
dc.contributor.author |
Singleton, Andrew B |
|
dc.contributor.author |
Silani, Vincenzo |
|
dc.contributor.author |
Ross, Owen A |
|
dc.contributor.author |
Ryten, Mina |
|
dc.contributor.author |
Torkamani, Ali |
|
dc.contributor.author |
Tanaka, Toshiko |
|
dc.contributor.author |
Ferrucci, Luigi |
|
dc.contributor.author |
Resnick, Susan M |
|
dc.contributor.author |
Pickering-Brown, Stuart |
|
dc.contributor.author |
Brady, Christopher B |
|
dc.contributor.author |
Kowal, Neil |
|
dc.contributor.author |
Hardy, John A |
|
dc.contributor.author |
Van Deerlin, Vivianna |
|
dc.contributor.author |
Vonsattel, Jean Paul |
|
dc.contributor.author |
Harms, Matthew B |
|
dc.contributor.author |
Morris, Huw R |
|
dc.contributor.author |
Ferrari, Raffaele |
|
dc.contributor.author |
Landers, John E |
|
dc.contributor.author |
Chiò, Adriano |
|
dc.contributor.author |
Gibbs, J Raphael |
|
dc.contributor.author |
Dalgard, Clifton L |
|
dc.contributor.author |
Scholz, Sonja W |
|
dc.contributor.author |
Traynor, Bryan J |
|
dc.coverage.spatial |
United States |
|
dc.date.accessioned |
2023-09-04T03:41:49Z |
|
dc.date.available |
2023-09-04T03:41:49Z |
|
dc.date.issued |
2021-02 |
|
dc.identifier.citation |
(2021). Neuron, 109(3), 448-460.e4. |
|
dc.identifier.issn |
0896-6273 |
|
dc.identifier.uri |
https://hdl.handle.net/2292/65532 |
|
dc.description.abstract |
We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered. |
|
dc.format.medium |
Print-Electronic |
|
dc.language |
eng |
|
dc.publisher |
Elsevier |
|
dc.relation.ispartofseries |
Neuron |
|
dc.rights |
Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher. |
|
dc.rights.uri |
https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm |
|
dc.rights.uri |
https://creativecommons.org/licenses/by-nc-nd/4.0/ |
|
dc.subject |
American Genome Center (TAGC) |
|
dc.subject |
FALS Sequencing Consortium |
|
dc.subject |
Genomics England Research Consortium |
|
dc.subject |
International ALS/FTD Genomics Consortium (iAFGC) |
|
dc.subject |
International FTD Genetics Consortium (IFGC) |
|
dc.subject |
International LBD Genomics Consortium (iLBDGC) |
|
dc.subject |
NYGC ALS Consortium |
|
dc.subject |
PROSPECT Consortium |
|
dc.subject |
Humans |
|
dc.subject |
Amyotrophic Lateral Sclerosis |
|
dc.subject |
DNA Repeat Expansion |
|
dc.subject |
Mutation |
|
dc.subject |
Frontotemporal Dementia |
|
dc.subject |
Huntingtin Protein |
|
dc.subject |
Whole Genome Sequencing |
|
dc.subject |
huntingtin |
|
dc.subject |
repeat expansions |
|
dc.subject |
whole-genome sequencing |
|
dc.subject |
5202 Biological Psychology |
|
dc.subject |
32 Biomedical and Clinical Sciences |
|
dc.subject |
3209 Neurosciences |
|
dc.subject |
52 Psychology |
|
dc.subject |
Genetics |
|
dc.subject |
Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) |
|
dc.subject |
Clinical Research |
|
dc.subject |
Neurodegenerative |
|
dc.subject |
Acquired Cognitive Impairment |
|
dc.subject |
Dementia |
|
dc.subject |
Frontotemporal Dementia (FTD) |
|
dc.subject |
Alzheimer's Disease Related Dementias (ADRD) |
|
dc.subject |
ALS |
|
dc.subject |
Rare Diseases |
|
dc.subject |
Brain Disorders |
|
dc.subject |
Neurosciences |
|
dc.subject |
Huntington's Disease |
|
dc.subject |
2.1 Biological and endogenous factors |
|
dc.subject |
2 Aetiology |
|
dc.subject |
Neurological |
|
dc.subject |
1109 Neurosciences |
|
dc.subject |
1701 Psychology |
|
dc.subject |
1702 Cognitive Sciences |
|
dc.title |
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis |
|
dc.type |
Journal Article |
|
dc.identifier.doi |
10.1016/j.neuron.2020.11.005 |
|
pubs.issue |
3 |
|
pubs.begin-page |
448 |
|
pubs.volume |
109 |
|
dc.date.updated |
2023-08-07T02:35:08Z |
|
dc.rights.holder |
Copyright: Published by Elsevier Inc. |
en |
dc.identifier.pmid |
33242422 (pubmed) |
|
pubs.author-url |
https://www.ncbi.nlm.nih.gov/pubmed/33242422 |
|
pubs.end-page |
460.e4 |
|
pubs.publication-status |
Published |
|
dc.rights.accessrights |
http://purl.org/eprint/accessRights/OpenAccess |
en |
pubs.subtype |
Research Support, N.I.H., Intramural |
|
pubs.subtype |
Research Support, Non-U.S. Gov't |
|
pubs.subtype |
research-article |
|
pubs.subtype |
Journal Article |
|
pubs.subtype |
Research Support, N.I.H., Extramural |
|
pubs.elements-id |
837932 |
|
pubs.org-id |
Science |
|
pubs.org-id |
Biological Sciences |
|
dc.identifier.eissn |
1097-4199 |
|
dc.identifier.pii |
S0896-6273(20)30883-7 |
|
pubs.record-created-at-source-date |
2023-08-07 |
|
pubs.online-publication-date |
2020-11-26 |
|