학술논문
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Document Type
Author
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.; 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.
Source
Neuron MultiPark: Multidisciplinary research focused on Parkinson´s disease.
Subject
Language
English
ISSN
0896-6273
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.