Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS.
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.
Prudlo
Johannes
J
Department of Neurology, University Hospital, Homburg/Saar, Germany. nejpru@uniklinik-saarland.de
Alber
Burkhard
B
Kalscheuer
Vera M
VM
Roemer
Klaus
K
Martin
Thomas
T
Dullinger
Joern
J
Sittinger
Helmut
H
Niemann
Stephan
S
Heutink
Peter
P
Ludolph
Albert C
AC
Ropers
Hilger H
HH
Zang
Klaus
K
Meyer
Thomas
T
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
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1