title: Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.
abstract: A chromosomal translocation t(18;21)(q23;q22) is reported in a patient with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We exclude the physical involvement and silencing of the ALS-linked gene for copper/zinc superoxide dismutase (SOD1) on chromosome 21q22.1. The breakpoints are assigned to sequences flanked by the markers ATA1H06, D18S462, D21S1915, and D21S1898. These critical regions may contain susceptibility loci for FTD associated with ALS.
authors.affiliation: Department of Neurology, University Hospital, Homburg/Saar, Germany. nejpru@uniklinik-saarland.de
authors.forename: Johannes
authors.initials: J
authors.lastname: Prudlo
authors.forename: Burkhard
authors.initials: B
authors.lastname: Alber
authors.forename: Vera M
authors.initials: VM
authors.lastname: Kalscheuer
authors.forename: Klaus
authors.initials: K
authors.lastname: Roemer
authors.forename: Thomas
authors.initials: T
authors.lastname: Martin
authors.forename: Joern
authors.initials: J
authors.lastname: Dullinger
authors.forename: Helmut
authors.initials: H
authors.lastname: Sittinger
authors.forename: Stephan
authors.initials: S
authors.lastname: Niemann
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
authors.forename: Albert C
authors.initials: AC
authors.lastname: Ludolph
authors.forename: Hilger H
authors.initials: HH
authors.lastname: Ropers
authors.forename: Klaus
authors.initials: K
authors.lastname: Zang
authors.forename: Thomas
authors.initials: T
authors.lastname: Meyer
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D015139:Blotting, Southern; D001921:Brain / Q000473:pathology*; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D003704:Dementia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1; D014055:Tomography, Emission-Computed; D014178:Translocation, Genetic
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1