title: Analysis of optineurin in frontotemporal lobar degeneration.
abstract: Frontotemporal lobar degeneration (FTLD) can occur jointly with amyotrophic lateral sclerosis (ALS), and these 2 conditions share a genetic risk factor on chromosome 9. It has been reported that mutations in optineurin (OPTN) can cause ALS. Therefore, we sequenced OPTN in 371 FTLD cases but no mutations were detected, suggesting changes in OPTN do not cause FTLD.
authors.affiliation: Neurodegeneration and Mental Health Research Group, Faculty of Human and Medical Sciences, University of Manchester, Manchester, UK.
authors.forename: Sara
authors.initials: S
authors.lastname: Rollinson
authors.forename: Janis
authors.initials: J
authors.lastname: Bennion
authors.forename: Greg
authors.initials: G
authors.lastname: Toulson
authors.forename: Nicola
authors.initials: N
authors.lastname: Halliwell
authors.forename: Suzanne
authors.initials: S
authors.lastname: Usher
authors.forename: Julie
authors.initials: J
authors.lastname: Snowden
authors.forename: Anna
authors.initials: A
authors.lastname: Richardson
authors.forename: David
authors.initials: D
authors.lastname: Neary
authors.forename: David
authors.initials: D
authors.lastname: Mann
authors.forename: Stuart M
authors.initials: SM
authors.lastname: Pickering-Brown
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D018797:Cell Cycle Proteins; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000453:epidemiology* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D018570:Risk Assessment; D012307:Risk Factors; D014018:Tissue Distribution; D035582:Transcription Factor TFIIIA / Q000235:genetics*; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D018797:Cell Cycle Proteins; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA