Article
Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.
Journal of Alzheimer's disease : JAD - 26 Feb 2016
Gómez-Tortosa Estrella, Prieto-Jurczynska Cristina, Serrano Soledad, Franco-Macías Emilio, Olivié Laura, Gallego Jesús, Guerrero-López Rosa, Trujillo-Tiebas María José, Ayuso Carmen, García Ruiz Pedro, Pérez-Pérez Julián, Sainz María José
Abstract excerpt
For diagnostic purposes, we screened for the C9ORF72 mutation in a) 162 FTLD cases, and b) 145 cases with other diagnoses but with some frontotemporal features or manifestations previously reported in C9 carriers. Ten cases (onset 50 to 75 years) harbored the expansion: seven had FTLD syndromes (4.3% of total, 11% of familial cases), and three (2%) had a different diagnosis. All positive cases had family history...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.