title: UBQLN2 variant of unknown significance in frontotemporal lobar degeneration.
abstract: Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are considered to be part of a disease spectrum. However, with the exception of C9orf72, genes that cause ALS are rarely found to cause FTD and vice versa. To investigate this further, we have sequenced the ALS gene UBQLN2 in our FTD cohort and have found a single putative mutation. This further supports the concept that ALS genes are a rare cause of FTD.
authors.affiliation: Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK.
authors.forename: Francis
authors.initials: F
authors.lastname: Ugwu
authors.affiliation: Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK.
authors.forename: Sara
authors.initials: S
authors.lastname: Rollinson
authors.affiliation: Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK; Institute of Brain, Behaviour and Mental Health, Salford Royal Hospital, Salford, UK.
authors.forename: Jenny
authors.initials: J
authors.lastname: Harris
authors.affiliation: Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK; Institute of Brain, Behaviour and Mental Health, Salford Royal Hospital, Salford, UK.
authors.forename: Alex
authors.initials: A
authors.lastname: Gerhard
authors.affiliation: Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK; Institute of Brain, Behaviour and Mental Health, Salford Royal Hospital, Salford, UK.
authors.forename: Anna
authors.initials: A
authors.lastname: Richardson
authors.affiliation: Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK; Institute of Brain, Behaviour and Mental Health, Salford Royal Hospital, Salford, UK.
authors.forename: Matt
authors.initials: M
authors.lastname: Jones
authors.affiliation: Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK; Institute of Brain, Behaviour and Mental Health, Salford Royal Hospital, Salford, UK.
authors.forename: David
authors.initials: D
authors.lastname: Mann
authors.affiliation: Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK; Institute of Brain, Behaviour and Mental Health, Salford Royal Hospital, Salford, UK.
authors.forename: Julie
authors.initials: J
authors.lastname: Snowden
authors.affiliation: Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK. Electronic address: SPB@manchester.ac.uk.
authors.forename: Stuart
authors.initials: S
authors.lastname: Pickering-Brown
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D000071183:Autophagy-Related Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014452:Ubiquitins / Q000235:genetics*; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000071183:Autophagy-Related Proteins; D018797:Cell Cycle Proteins; C405662:UBQLN2 protein, human; D014452:Ubiquitins
keywords: ALS; Amyotrophic lateral sclerosis; FTD; Frontotemporal dementia; UBQLN2