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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Dewan, Ramita ; Chia, Ruth ; Ding, Jinhui ; Hickman, Richard A. ; Stein, Thor D. ; Abramzon, Yevgeniya ; Ahmed, Sarah ; Sabir, Marya S. ; Portley, Makayla K. and Tucci, Arianna , et al. (2020) In Neuron
Abstract

Using large-scale whole-genome sequencing, Dewan et al. identify pathogenic HTT repeat expansions in patients diagnosed with FTD/ALS neurodegenerative disorders. Autopsies confirm the TDP-43 pathology expected in FTD/ALS and show polyglutamine inclusions within the frontal cortices but no striatal degeneration. These data broaden the phenotype resulting from HTT repeat expansions.

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author collaboration
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
amyotrophic lateral sclerosis, frontotemporal dementia, huntingtin, repeat expansions, whole-genome sequencing
in
Neuron
publisher
Cell Press
external identifiers
  • scopus:85097045939
  • pmid:33242422
ISSN
0896-6273
DOI
10.1016/j.neuron.2020.11.005
language
English
LU publication?
yes
id
a41a44d5-07d8-4e9c-915a-b817fac60859
date added to LUP
2020-12-16 14:16:32
date last changed
2024-12-13 22:50:23
@article{a41a44d5-07d8-4e9c-915a-b817fac60859,
  abstract     = {{<p>Using large-scale whole-genome sequencing, Dewan et al. identify pathogenic HTT repeat expansions in patients diagnosed with FTD/ALS neurodegenerative disorders. Autopsies confirm the TDP-43 pathology expected in FTD/ALS and show polyglutamine inclusions within the frontal cortices but no striatal degeneration. These data broaden the phenotype resulting from HTT repeat expansions.</p>}},
  author       = {{Dewan, Ramita and Chia, Ruth and Ding, Jinhui and Hickman, Richard A. and Stein, Thor D. and Abramzon, Yevgeniya and Ahmed, Sarah and Sabir, Marya S. and Portley, Makayla K. and Tucci, Arianna and Ibáñez, Kristina and Shankaracharya, F. N.U. and Keagle, Pamela and Rossi, Giacomina and Caroppo, Paola and Tagliavini, Fabrizio and Waldo, Maria L. and Johansson, Per M. and Nilsson, Christer F. and Rowe, James B. and Benussi, Luisa and Binetti, Giuliano and Ghidoni, Roberta and Jabbari, Edwin and Viollet, Coralie and Glass, Jonathan D. and Singleton, Andrew B. and Silani, Vincenzo and Ross, Owen A. and Ryten, Mina and Torkamani, Ali and Tanaka, Toshiko and Ferrucci, Luigi and Resnick, Susan M. and Pickering-Brown, Stuart and Brady, Christopher B. and Kowal, Neil and Hardy, John A. and Van Deerlin, Vivianna and Vonsattel, Jean Paul and Harms, Matthew B. and Morris, Huw R. and Ferrari, Raffaele and Landers, John E. and Chiò, Adriano and Gibbs, J. Raphael and Dalgard, Clifton L. and Scholz, Sonja W. and Traynor, Bryan J.}},
  issn         = {{0896-6273}},
  keywords     = {{amyotrophic lateral sclerosis; frontotemporal dementia; huntingtin; repeat expansions; whole-genome sequencing}},
  language     = {{eng}},
  publisher    = {{Cell Press}},
  series       = {{Neuron}},
  title        = {{Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis}},
  url          = {{http://dx.doi.org/10.1016/j.neuron.2020.11.005}},
  doi          = {{10.1016/j.neuron.2020.11.005}},
  year         = {{2020}},
}