title: Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.
abstract: One of the most interesting findings in the field of neurodegeneration in recent years is tfche discovery of a genetic mutation in the C9orf72 gene, the most common mutation found to be causative of sporadic and familial frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS) and concomitant FTD-ALS (DeJesus-Hernandez et al., 2011b; Renton et al., 2011). While clinical and molecular data, such as the identification of TDP-43 being a common pathological protein (Neumann et al., 2006) have hinted at such a link for years, the identification of what was formally known as "the chromosome 9 FTLD-ALS gene" has provided a foundation for better understanding of the relationship between the two. Indeed, it is now recognized that ALS and FTLD-TDP represent a disease spectrum. In this review, we will discuss the current genetic and pathological features of the FTLD-ALS spectrum.
authors.affiliation: Institute of Brain, Behaviour and Mental Health, University of Manchester, Oxford Road, Manchester, M13 9PT, UK.
authors.forename: Janis
authors.initials: J
authors.lastname: Bennion Callister
authors.affiliation: Institute of Brain, Behaviour and Mental Health, University of Manchester, Oxford Road, Manchester, M13 9PT, UK. Electronic address: SPB@Manchester.ac.uk.
authors.forename: Stuart M
authors.initials: SM
authors.lastname: Pickering-Brown
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics*; D057180:Frontotemporal Dementia / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D009154:Mutation / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins