1. Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the
- Author
-
Oriol, Dols-Icardo, Alberto, García-Redondo, Ricardo, Rojas-García, Daniel, Borrego-Hernández, Ignacio, Illán-Gala, José Luís, Muñoz-Blanco, Alberto, Rábano, Laura, Cervera-Carles, Alexandra, Juárez-Rufián, Nino, Spataro, Noemí, De Luna, Lucía, Galán, Elena, Cortes-Vicente, Juan, Fortea, Rafael, Blesa, Oriol, Grau-Rivera, Alberto, Lleó, Jesús, Esteban-Pérez, Ellen, Gelpi, and Jordi, Clarimón
- Subjects
Adult ,Aged, 80 and over ,Male ,TATA-Binding Protein Associated Factors ,Receptor, ErbB-4 ,Flavoproteins ,Amyotrophic Lateral Sclerosis ,Middle Aged ,Protein Serine-Threonine Kinases ,Phosphoric Monoester Hydrolases ,DNA-Binding Proteins ,Valosin Containing Protein ,Frontotemporal Dementia ,Mutation ,Sequestosome-1 Protein ,Humans ,Female ,Aged ,Retrospective Studies - Abstract
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum.The purpose of the present study was to assess the mutation burden that is present in patients with concurrent ALS and FTD (ALS/FTD) not carrying the chromosome 9 open reading frame 72 (From an initial group of 973 patients with ALS, we retrospectively selected those patients fulfilling diagnostic criteria of concomitant ALS and FTD lacking the repeat expansion mutation inWe identified 11 patients carrying a probable pathogenic mutation, representing an overall mutation frequency of 20.4%.Our results indicate a high genetic burden underlying the co-occurrence of ALS and FTD and expand the phenotype associated with
- Published
- 2017