Reference : Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and ...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Human health sciences : Neurology
Systems Biomedicine
http://hdl.handle.net/10993/45883
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
English
Dewan, Ramita [> >]
Chia, Ruth [> >]
Ding, Jinhui [> >]
Hickman, Richard A. [> >]
Stein, Thor D. [> >]
Abramzon, Yevgeniya [> >]
Ahmed, Sarah [> >]
Sabir, Marya S. [> >]
Portley, Makayla K. [> >]
Tucci, Arianna [> >]
Ibáñez, Kristina [> >]
Shankaracharya, F. N. U. [> >]
Keagle, Pamela [> >]
Rossi, Giacomina [> >]
Caroppo, Paola [> >]
Tagliavini, Fabrizio [> >]
Waldo, Maria L. [> >]
Johansson, Per M. [> >]
Nilsson, Christer F. [> >]
May, Patrick mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core]
Krüger, Rejko mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience]
Rowe, James B. [> >]
Benussi, Luisa [> >]
Binetti, Giuliano [> >]
Ghidoni, Roberta [> >]
Jabbari, Edwin [> >]
Viollet, Coralie [> >]
Glass, Jonathan D. [> >]
Singleton, Andrew B. [> >]
Silani, Vincenzo [> >]
Ross, Owen A. [> >]
Ryten, Mina [> >]
Torkamani, Ali [> >]
Tanaka, Toshiko [> >]
Ferrucci, Luigi [> >]
Resnick, Susan M. [> >]
Pickering-Brown, Stuart [> >]
Brady, Christopher B. [> >]
Kowal, Neil [> >]
Hardy, John A. [> >]
Van Deerlin, Vivianna [> >]
Vonsattel, Jean Paul [> >]
Harms, Matthew B. [> >]
Morris, Huw R. [> >]
Ferrari, Raffaele [> >]
Landers, John E. [> >]
Chiò, Adriano [> >]
Gibbs, J. Raphael [> >]
Dalgard, Clifton L. [> >]
Scholz, Sonja W. [> >]
Traynor, Bryan J. [> >]
3-Feb-2021
Neuron
109
3
448-460
Yes (verified by ORBilu)
International
0896-6273
1097-4199
United States
[en] amyotrophic lateral sclerosis ; frontotemporal dementia ; huntingtin ; repeat expansions ; whole-genome sequencing
[en] 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.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) ; Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Researchers ; Professionals ; Students
http://hdl.handle.net/10993/45883
10.1016/j.neuron.2020.11.005
https://www.cell.com/neuron/fulltext/S0896-6273(20)30883-7?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0896627320308837%3Fshowall%3Dtrue
Published by Elsevier Inc.
FnR ; FNR11264123 > Rejko Krüger > > Ncer-pd > 01/01/2015 > 30/11/2020 > 2015

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