Article
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Neuron - 3 Feb 2021
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
Abstract excerpt
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...
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