Sergio Pérez-Oliveira, Juan Castilla-Silgado, Cèlia Painous, Iban Aldecoa, Manuel Menéndez-González, Marta Blázquez-Estrada, Daniela Corte, Cristina Tomás-Zapico, Yaroslau Compta, Esteban Muñoz, Albert Lladó, Mircea Balasa, Gemma Aragonès, Pablo García-González, Maitée Rosende-Roca, Mercè Boada, Agustín Ruíz, Pau Pastor, Beatriz De la Casa-Fages, Alberto Rabano, Raquel Sánchez-Valle, Laura Molina-Porcel, Victoria Álvarez
Previous studies have suggested a relationship between the number of CAG triplet repeats in the HTT gene and neurodegenerative diseases not related to Huntington's disease (HD). This study seeks to investigate whether the number of CAG repeats of HTT is associated with the risk of developing certain tauopathies and its influence as a modulator of the clinical and neuropathological phenotype. Additionally, it aims to evaluate the potential of polyglutamine staining as a neuropathological screening. We genotyped the HTT gene CAG repeat number and APOE-ℰ isoforms in a cohort of patients with neuropathological diagnoses of tauopathies (n=588), including 34 corticobasal degeneration (CBD), 98 progressive supranuclear palsy (PSP) and 456 Alzheimer's disease (AD)...
February 28, 2024: Brain Pathology