TY - JOUR
T1 - Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
AU - Dewan, Ramita
AU - Chia, Ruth
AU - Ding, Jinhui
AU - Hickman, Richard A.
AU - Stein, Thor D.
AU - Abramzon, Yevgeniya
AU - Ahmed, Sarah
AU - Sabir, Marya S.
AU - Portley, Makayla K.
AU - Tucci, Arianna
AU - Ibáñez, Kristina
AU - Shankaracharya, F. N.U.
AU - Keagle, Pamela
AU - Rossi, Giacomina
AU - Caroppo, Paola
AU - Tagliavini, Fabrizio
AU - Waldo, Maria L.
AU - Johansson, Per M.
AU - Nilsson, Christer F.
AU - Rowe, James B.
AU - Benussi, Luisa
AU - Binetti, Giuliano
AU - Ghidoni, Roberta
AU - Jabbari, Edwin
AU - Viollet, Coralie
AU - Glass, Jonathan D.
AU - Singleton, Andrew B.
AU - Silani, Vincenzo
AU - Ross, Owen A.
AU - Ryten, Mina
AU - Torkamani, Ali
AU - Tanaka, Toshiko
AU - Ferrucci, Luigi
AU - Resnick, Susan M.
AU - Pickering-Brown, Stuart
AU - Brady, Christopher B.
AU - Kowal, Neil
AU - Hardy, John A.
AU - Van Deerlin, Vivianna
AU - Vonsattel, Jean Paul
AU - Harms, Matthew B.
AU - Morris, Huw R.
AU - Ferrari, Raffaele
AU - Landers, John E.
AU - Chiò, Adriano
AU - Gibbs, J. Raphael
AU - Dalgard, Clifton L.
AU - Scholz, Sonja W.
AU - Traynor, Bryan J.
AU - The American Genome Center (TAGC)
AU - FALS Sequencing Consortium
AU - Genomics England Research Consortium
AU - International ALS/FTD Genomics Consortium (iAFGC)
AU - International FTD-Genomics Consortium (IFGC)
AU - International LBD Genomics Consortium (iLBDGC)
AU - NYGC ALS Consortium
AU - PROSPECT Consortium
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - amyotrophic lateral sclerosis
KW - frontotemporal dementia
KW - huntingtin
KW - repeat expansions
KW - whole-genome sequencing
UR - https://www.scopus.com/pages/publications/85097045939
U2 - 10.1016/j.neuron.2020.11.005
DO - 10.1016/j.neuron.2020.11.005
M3 - Article
C2 - 33242422
AN - SCOPUS:85097045939
SN - 0896-6273
JO - Neuron
JF - Neuron
ER -